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Copy-number variation: the end of the human genome?

Trends in biotechnology - 1 Aug 2009

Dear Paul H

Abstract excerpt

Copy-number variation (CNV)--the presence of additional or missing segments of chromosomes in some individuals--has been found to be abundant in humans and adds another dimension of variation to the genome. Copy-number variants have already been associated with some diseases and disease susceptibilities and are likely to prove as significant as sequence polymorphisms in this respect. Changes in copy number of...

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PMID: 19576644
DOI: 10.1016/j.tibtech.2009.05.003

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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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