Nigel P. Carter is in The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK. npc@sanger.ac.uk
Two papers report that large-scale copy-number variations, ranging in size from 100 kb to 2 Mb, are distributed widely throughout the human genome, and that a high proportion of them encompass known genes. This unexpected level of genome variation has implications for our view of human genetic diversity and phenotypic variation.
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