Cited by 940Genomic variations and chromosomal abnormalitiesGenome Rearrangement AlgorithmsGenetic Associations and Epidemiology

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A copy number variation map of the human genome

Zarrei, Mehdi, MacDonald, Jeffrey R., Merico, Daniele, Scherer, Stephen W.·2015·Nature Reviews Genetics

DOI 10.1038/nrg3871

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Abstract

A major contribution to the genome variability among individuals comes from deletions and duplications — collectively termed copy number variations (CNVs) — which alter the diploid status of DNA. These alterations may have no phenotypic effect, account for adaptive traits or can underlie disease. We have compiled published high-quality data on healthy individuals of various ethnicities to construct an updated CNV map of the human genome. Depending on the level of stringency of the map, we estimated that 4.8–9.5% of the genome contributes to CNV and found approximately 100 genes that can be completely deleted without producing apparent phenotypic consequences. This map will aid the interpretation of new CNV findings for both clinical and research applications.

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Gene Ontology: tool for the unification of biology
Ashburner, M., Ball, C. A., Blake, J. A., Botstein, D., Butler, H., Cherry, J. M., Davis, A. P., Dolinski, K., Dwight, S. S., Eppig, J. T., et al. (2000) · Nature Genetics · doi:10.1038/75556 · Cited by 43,206
Initial sequencing and analysis of the human genome
International Human Genome Sequencing Consortium, Whitehead Institute for Biomedical Research, C. F. G. R., Lander, E. S., Linton, L. M., Birren, B., Nusbaum, C., Zody, M. C., Baldwin, J., Devon, K., Dewar, K., et al. (2001) · Nature · doi:10.1038/35057062 · Cited by 24,216
An integrated encyclopedia of DNA elements in the human genome
The ENCODE Project Consortium (2012) · Nature · doi:10.1038/nature11247 · Cited by 18,072
A map of human genome variation from population-scale sequencing.
The 1000 Genomes Project Consortium (2010) · Nature · doi:10.1038/nature09534 · Cited by 7,877
An integrated map of genetic variation from 1,092 human genomes
The 1000 Genomes Project Consortium (2012) · Nature · doi:10.1038/nature11632 · Cited by 7,711
A haplotype map of the human genome
The International HapMap Consortium (2005) · Nature · doi:10.1038/nature04226 · Cited by 5,858
Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project
The ENCODE Project Consortium (2007) · Nature · doi:10.1038/nature05874 · Cited by 5,223
NCBI reference sequences (RefSeq): a curated non-redundant sequence database of genomes, transcripts and proteins
Pruitt, K. D., Tatusova, T. A., & Maglott, D. R. (2006) · Nucleic Acids Research · doi:10.1093/nar/gkl842 · Cited by 4,441
Global variation in copy number in the human genome
Redon, R., Ishikawa, S., Fitch, K. R., Feuk, L., Perry, G. H., Andrews, T. D., Fiegler, H., Shapero, M. H., Carson, A. R., Chen, W., et al. (2006) · Nature · doi:10.1038/nature05329 · Cited by 4,377
Self-citation
Integrating common and rare genetic variation in diverse human populations
The International HapMap 3 Consortium (2010) · Nature · doi:10.1038/nature09298 · Cited by 3,026

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Additional file 4 of Genome-wide detection of CNV regions and their potential association with growth and fatness traits in Duroc pigs
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Additional file 6 of Genome-wide detection of CNV regions and their potential association with growth and fatness traits in Duroc pigs
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Additional file 2 of Genome-wide detection of CNV regions and their potential association with growth and fatness traits in Duroc pigs
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Additional file 3 of Genome-wide detection of CNV regions and their potential association with growth and fatness traits in Duroc pigs
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Additional file 1 of Genome-wide detection of CNV regions and their potential association with growth and fatness traits in Duroc pigs
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Additional file 7 of Genome-wide detection of CNV regions and their potential association with growth and fatness traits in Duroc pigs
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Additional file 5 of Genome-wide detection of CNV regions and their potential association with growth and fatness traits in Duroc pigs
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Additional file 2 of Detection of copy number variants in African goats using whole genome sequence data
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Additional file 3 of Exploring quantitative traits-associated copy number deletions through reanalysis of UK10K consortium whole genome sequencing cohorts
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Additional file 3 of Understanding genetic variability: exploring large-scale copy number variants through non-invasive prenatal testing in European populations
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Additional file 1 of Implementation of Nanopore sequencing as a pragmatic workflow for copy number variant confirmation in the clinic
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Additional file 10 of Exploring quantitative traits-associated copy number deletions through reanalysis of UK10K consortium whole genome sequencing cohorts
Lee, S., KIM, J., & Ohn, J. H. (2024) · Figshare · doi:10.6084/m9.figshare.26655772
Additional file 2 of X-CNV: genome-wide prediction of the pathogenicity of copy number variations
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Additional file 2 of Implementation of Nanopore sequencing as a pragmatic workflow for copy number variant confirmation in the clinic
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Additional file 7 of Exploring quantitative traits-associated copy number deletions through reanalysis of UK10K consortium whole genome sequencing cohorts
Lee, S., KIM, J., & Ohn, J. H. (2024) · Figshare · doi:10.6084/m9.figshare.26655763
Additional file 6 of Exploring quantitative traits-associated copy number deletions through reanalysis of UK10K consortium whole genome sequencing cohorts
Lee, S., KIM, J., & Ohn, J. H. (2024) · Figshare · doi:10.6084/m9.figshare.26655760
Additional file 1 of Sensitivity to gene dosage and gene expression affects genes with copy number variants observed among neuropsychiatric diseases
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Additional file 5 of Whole-genome genotyping and resequencing reveal the association of a deletion in the complex interferon alpha gene cluster with hypothyroidism in dogs
Bianchi, M., Rafati, N., Karlsson, A. E., Murén, E., Rubin, C.-J., Sundberg, K., Andersson, G., Kämpe, O., Hedhammar, Å., Lindblad‐Toh, K., et al. (2020) · Figshare · doi:10.6084/m9.figshare.12144021
Additional file 2 of Understanding genetic variability: exploring large-scale copy number variants through non-invasive prenatal testing in European populations
Holesova, Z., Pös, O., Gazdarica, J., Kucharík, M., Budiš, J., Hýblová, M., Minárik, G., & Szemes, T. (2024) · Figshare · doi:10.6084/m9.figshare.25609240
Additional file 2 of Genetic underpinnings explored: OPA1 deletion and complex phenotypes on chromosome 3q29
Wang, E. H.-H., Lin, P.-H., Wu, P.-L., Kang, E. Y.-C., Liu, L., Yeh, L.-K., Chen, K.-J., Hsiao, M.-C., & Wang, N.-K. (2024) · Figshare · doi:10.6084/m9.figshare.25656153
Additional file 8 of Exploring quantitative traits-associated copy number deletions through reanalysis of UK10K consortium whole genome sequencing cohorts
Lee, S., KIM, J., & Ohn, J. H. (2024) · Figshare · doi:10.6084/m9.figshare.26655766
Additional file 1 of Long-insert sequence capture detects high copy numbers in a defence-related beta-glucosidase gene βglu-1 with large variations in white spruce but not Norway spruce
Hung, T. H., Wu, E., Zeltiņš, P., Jansons, Ā., Ullah, A., Erbilgin, N., Bohlmann, J., Bousquet, J., Birol, I., Clegg, S. M., et al. (2024) · Figshare · doi:10.6084/m9.figshare.25097310
Additional file 4 of Exploring quantitative traits-associated copy number deletions through reanalysis of UK10K consortium whole genome sequencing cohorts
Lee, S., KIM, J., & Ohn, J. H. (2024) · Figshare · doi:10.6084/m9.figshare.26655754
Additional file 13 of MetaCNV - a consensus approach to infer accurate copy numbers from low coverage data
Friedrich, S., Barbulescu, R., Helleday, T., & Sonnhammer, E. L. L. (2020) · Figshare · doi:10.6084/m9.figshare.12413750
Additional file 1 of Analysis of common genetic variation and rare CNVs in the Australian Autism Biobank
Yap, C. X., Alvares, G. A., Henders, A. K., Lin, T., Wallace, L. M., Farrelly, A., McLaren, T., Berry, J., Vinkhuyzen, A. A. E., Trzaskowski, M., et al. (2021) · Figshare · doi:10.6084/m9.figshare.13889079
Additional file 5 of Exploring quantitative traits-associated copy number deletions through reanalysis of UK10K consortium whole genome sequencing cohorts
Lee, S., KIM, J., & Ohn, J. H. (2024) · Figshare · doi:10.6084/m9.figshare.26655757
Additional file 2 of Whole-genome genotyping and resequencing reveal the association of a deletion in the complex interferon alpha gene cluster with hypothyroidism in dogs
Bianchi, M., Rafati, N., Karlsson, A. E., Murén, E., Rubin, C.-J., Sundberg, K., Andersson, G., Kämpe, O., Hedhammar, Å., Lindblad‐Toh, K., et al. (2020) · Figshare · doi:10.6084/m9.figshare.12143994
Additional file 1 of Copy number amplification-induced overexpression of lncRNA LOC101927668 facilitates colorectal cancer progression by recruiting hnRNPD to disrupt RBM47/p53/p21 signaling
Wang, Z., Han, H., Zhang, C., Wu, C., Di, J., Xing, P., Qiao, X., Weng, K., Hao, H., Yang, X., et al. (2024) · Figshare · doi:10.6084/m9.figshare.27140773
Additional file 1 of Analysis of copy number variants detected by sequencing in spontaneous abortion
Liu, A., Zhou, L., Huang, Y., & Peng, D. (2024) · Figshare · doi:10.6084/m9.figshare.25857490
Additional file 1 of Read-depth based approach on whole genome resequencing data reveals important insights into the copy number variation (CNV) map of major global buffalo breeds
Ahmad, S. F., Chandrababu Shailaja, C., Vaishnav, S., Kumar, A., Gaur, G. K., Janga, S. C., Ahmad, S. M., Malla, W. A., & Dutt, T. (2023) · Figshare · doi:10.6084/m9.figshare.24320014
Additional file 3 of Implementation of Nanopore sequencing as a pragmatic workflow for copy number variant confirmation in the clinic
Greer, S., Botello, J., Hongo, D., Levy, B., Shah, P., Rabinowitz, M., Miller, D. E., Im, K., & Kumar, A. (2024) · Figshare · doi:10.6084/m9.figshare.26596328
Additional file 1 of Genetic underpinnings explored: OPA1 deletion and complex phenotypes on chromosome 3q29
Wang, E. H.-H., Lin, P.-H., Wu, P.-L., Kang, E. Y.-C., Liu, L., Yeh, L.-K., Chen, K.-J., Hsiao, M.-C., & Wang, N.-K. (2024) · Figshare · doi:10.6084/m9.figshare.25656045
Additional file 4 of Whole-genome genotyping and resequencing reveal the association of a deletion in the complex interferon alpha gene cluster with hypothyroidism in dogs
Bianchi, M., Rafati, N., Karlsson, A. E., Murén, E., Rubin, C.-J., Sundberg, K., Andersson, G., Kämpe, O., Hedhammar, Å., Lindblad‐Toh, K., et al. (2020) · Figshare · doi:10.6084/m9.figshare.12144015
Additional file 3 of Whole-genome genotyping and resequencing reveal the association of a deletion in the complex interferon alpha gene cluster with hypothyroidism in dogs
Bianchi, M., Rafati, N., Karlsson, A. E., Murén, E., Rubin, C.-J., Sundberg, K., Andersson, G., Kämpe, O., Hedhammar, Å., Lindblad‐Toh, K., et al. (2020) · Figshare · doi:10.6084/m9.figshare.12144000
Additional file 8 of Whole-genome genotyping and resequencing reveal the association of a deletion in the complex interferon alpha gene cluster with hypothyroidism in dogs
Bianchi, M., Rafati, N., Karlsson, A. E., Murén, E., Rubin, C.-J., Sundberg, K., Andersson, G., Kämpe, O., Hedhammar, Å., Lindblad‐Toh, K., et al. (2020) · Figshare · doi:10.6084/m9.figshare.12144042

Authors: Zarrei, M., MacDonald, J. R., Merico, D., & Scherer, S. W.
Affiliations: Hospital for Sick Children (CA)
University of Toronto (CA)
Corresponding author: Scherer, Stephen W.
ORCID: MacDonald, Jeffrey R.
Merico, Daniele
Scherer, Stephen W.
Venue: Nature Reviews Genetics
Publisher: Springer Science and Business Media LLC
Published: 2015-02-03
Volume: 16
Issue: 3
Pages: 172-183
ISSN: 1471-0056 (ISSN-L)
1471-0064
DOI: 10.1038/nrg3871
OpenAlex: W2034197594
Semantic Scholar: 1041ea8e25df9256cca423a729e9013ca2419c1f
Cited by: 921
References: 100
Citations by year: 2026: 29 · 2025: 60 · 2024: 80 · 2023: 72 · 2022: 83 · 2021: 92 · 2020: 84 · 2019: 113 · 2018: 126 · 2017: 88 · 2016: 68 · 2015: 25
FWCI: 13.22
Type: journal article
Language: en
Open access: closed
Licence: www.springer.com/tdm (tdm)
Locations: Nature Reviews Genetics (publishedVersion)
PubMed (publishedVersion)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genome Rearrangement Algorithms
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
Keywords: copy number variation, human genome, genomic deletions, genomic duplication, healthy individuals, ethnic differences, phenotypic consequences, adaptive traits
MeSH terms: Chromosome Mapping, DNA, Genotype, Humans, Phenotype, Genome, Human, Gene Deletion, Genetic Predisposition to Disease, Oligonucleotide Array Sequence Analysis, Gene Duplication, Genetic Association Studies, DNA Copy Number Variations, High-Throughput Nucleotide Sequencing

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A copy number variation map of the human genome

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