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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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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