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Copy-number variation and association studies of human disease

✍ Scribed by McCarroll, Steven A; Altshuler, David M

Book ID: 109919601
Publisher: Nature Publishing Group
Year: 2007
Tongue: English
Weight: 417 KB
Volume: 39
Category: Article
ISSN: 1061-4036
DOI: 10.1038/ng2080

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## Communicated by Ian N.M. Day Two major types of genetic variation are known: single nucleotide polymorphisms (SNPs), and a more recently discovered structural variation, involving changes in copy number (CNVs) of kilobase-to megabase-sized chromosomal segments. It is unknown whether CNVs arise