A copy number variation map of the human genome

The copy number variation (CNV) map of the human genome documents the extent and characteristics of CNV among healthy populations.Depending on the level of stringency of the map, 4.8–9.7% of the human genome contributes to CNVs.CNVs are distributed unevenly in the genome; the pericentromeric and subtelomeric regions of chromosomes show a particularly high rate of variation.Various gene groups are affected differently by copy number variants. Genes that are associated with disease are the least affected by copy number variants, whereas paralogous genes have the most copy number variants.More than 100 genes can be completely removed from the genome without producing apparent phenotypic consequences.The CNV map will aid the interpretation of copy number variants of medical importance.