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Article

The clinical context of copy number variation in the human genome.

Expert reviews in molecular medicine - 9 Mar 2010

Lee Charles, Scherer Stephen W

Abstract excerpt

During the past five years, copy number variation (CNV) has emerged as a highly prevalent form of genomic variation, bridging the interval between long-recognised microscopic chromosomal alterations and single-nucleotide changes. These genomic segmental differences among humans reflect the dynamic nature of genomes, and account for both normal variations among us and variations that predispose to conditions of...

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PMID: 20211047
DOI: 10.1017/S1462399410001390

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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