Germ-line DNA copy number variation frequencies in a large North American population
- 19 July 2007
- journal article
- Published by Springer Science and Business Media LLC in Human Genetics
- Vol. 122 (3-4), 345-353
- https://doi.org/10.1007/s00439-007-0404-5
Abstract
Genomic copy number variation (CNV) is a recently identified form of global genetic variation in the human genome. The Affymetrix GeneChip 100 and 500 K SNP genotyping platforms were used to perform a large-scale population-based study of CNV frequency. We constructed a genomic map of 578 CNV regions, covering approximately 220 Mb (7.3%) of the human genome, identifying 183 previously unknown intervals. Copy number changes were observed to occur infrequently (93%) of these genomic regions, but encompass hundreds of genes and disease loci. This North American population-based map will be a useful resource for future genetic studies.Keywords
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