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

A copy number variation map of the human genome

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

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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Crossref · 10.1038/nrg3871

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  • TAD boundaries are significantly less likely (P < 0.02) to be affected by known deletion and duplication polymorphisms derived from genomes of healthy human populations.

    “Interestingly, TAD boundaries are significantly less likely (P < 0.02) to be affected by known deletion and duplication polymorphisms derived from genomes of healthy human populations25–27 (Extended Data Fig. 2d).”

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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.
Venue
Nature Reviews Genetics
Published
2015-02-03
Volume
16
Issue
3
Pages
172-183
ISSN
  • 1471-0056 (ISSN-L)
  • 1471-0064
OpenAlex
W2034197594
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
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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