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Copy number variation and human genome maps

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.

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

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Correspondence to Steven A McCarroll.

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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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