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Article

A copy number variation map of the human genome.

Nature reviews. Genetics - 1 Mar 2015

Zarrei Mehdi, MacDonald Jeffrey R, Merico Daniele, Scherer Stephen W

Abstract excerpt

A major contribution to the genome variability among individuals comes from deletions and duplications - collectively termed copy number variations (CNVs) - which alter the diploid status of DNA. These alterations may have no phenotypic effect, account for adaptive traits or can underlie disease. We have compiled published high-quality data on healthy individuals of various ethnicities to construct an updated CNV...

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PMID: 25645873
DOI: 10.1038/nrg3871

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