A copy number variation map of the human genome

@article{Zarrei2015ACN,
  title={A copy number variation map of the human genome},
  author={Mehdi Zarrei and Jeffrey R. MacDonald and Daniele Merico and Stephen W. Scherer},
  journal={Nature Reviews Genetics},
  year={2015},
  volume={16},
  pages={172-183}
}
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 map of the human genome. Depending on the level of stringency of the map, we… 

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