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Copy number variation and human genome maps

Nature Genetics volume 42, pages 365–366 (2010)Cite this article

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Maps of human genome copy number variation (CNV) are maturing into useful resources for complex disease genetics. Four new studies increase the resolution of CNV maps and seek to locate human phenotypic variation on these maps.

Genetic variation ranges in size from the fine scale of SNPs to the multi-kilobase deletions and duplications that comprise copy number variation (CNV), variation in the number of copies of a genomic segment. Since observations in 2004 that human genomes harbor extensive CNV1,2, geneticists have sought to determine what segments of the genome are affected by CNV, to develop effective ways to measure the dosage of these segments in individuals' genomes, and to assess how CNV relates to variation in phenotypes. Four new studies3,4,5,6 represent a significant step forward in these efforts.

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Figure 1: Evolution of maps of structural variation at the NEGR1 locus.

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  1. Steven A. McCarroll is at the Harvard Medical School Department of Genetics, Boston, Massachusetts, USA.,

    Steven A McCarroll

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  1. Steven A McCarroll
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Correspondence to Steven A McCarroll.

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The author declares no competing financial interests.

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McCarroll, S. Copy number variation and human genome maps. Nat Genet 42, 365–366 (2010). https://doi.org/10.1038/ng0510-365

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