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Hum Genet. 2007 Nov;122(3-4):345-53. Epub 2007 Jul 19.

Germ-line DNA copy number variation frequencies in a large North American population.

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  • 1Sam Minuk Cancer Genetics and Biomarker Laboratories, Fred Litwin Centre for Cancer Genetics, Samuel Lunenfeld Research Institute, Toronto, Canada.


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 (<1%) in the majority (>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.

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