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Article

Copy number variation in human health, disease, and evolution.

Annual review of genomics and human genetics - 1 Jan 2009

Zhang Feng, Gu Wenli, Hurles Matthew E, Lupski James R

Abstract excerpt

Copy number variation (CNV) is a source of genetic diversity in humans. Numerous CNVs are being identified with various genome analysis platforms, including array comparative genomic hybridization (aCGH), single nucleotide polymorphism (SNP) genotyping platforms, and next-generation sequencing. CNV formation occurs by both recombination-based and replication-based mechanisms and de novo locus-specific mutation...

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Identifiers

PMID: 19715442
DOI: 10.1146/annurev.genom.9.081307.164217
PMCID: PMC4472309

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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