Origins and functional impact of copy number variation in the human genome.

doi:10.1038/nature08516

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Article

Origins and functional impact of copy number variation in the human genome.

Nature - 1 Apr 2010

Conrad Donald F, Pinto Dalila, Redon Richard, Feuk Lars, Gokcumen Omer, Zhang Yujun, Aerts Jan, Andrews T Daniel, Barnes Chris, Campbell Peter, Fitzgerald Tomas, Hu Min, Ihm Chun Hwa, Kristiansson Kati, Macarthur Daniel G, Macdonald Jeffrey R, Onyiah Ifejinelo, Pang Andy Wing Chun, Robson Sam, Stirrups Kathy, Valsesia Armand, Walter Klaudia, Wei John, Tyler-Smith Chris, Carter Nigel P, Lee Charles, Scherer Stephen W, Hurles Matthew E

Abstract excerpt

Structural variations of DNA greater than 1 kilobase in size account for most bases that vary among human genomes, but are still relatively under-ascertained. Here we use tiling oligonucleotide microarrays, comprising 42 million probes, to generate a comprehensive map of 11,700 copy number variations (CNVs) greater than 443 base pairs, of which most (8,599) have been validated independently. For 4,978 of these...

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PMID: 19812545
DOI: 10.1038/nature08516
PMCID: PMC3330748

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

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