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Cytogenet Genome Res. 2008;123(1-4):211-23. doi: 10.1159/000184711. Epub 2009 Mar 11.

Germline copy number variation in control populations.

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Samuel Lunenfeld Research Institute, and Division of General Surgery, Department of Surgery, University of Toronto, Toronto, Ont., Canada.


Copy number variation (CNV) is an important source of genomic variation. Characterizing CNVs in phenotypically normal individuals is important for understanding the functional significance of these variants. Many studies have reported CNVs in control populations, but wide variability is observed in their design and outcome. Importantly, medical and phenotypic information for control populations must be carefully documented, and accurate genotyping will be necessary to determine the population genetics of CNVs. Despite existing challenges in studying this class of variants, it is evident that CNVs are ubiquitous in human genomes, with non-random distribution, and they affect thousands of coding regions, potentially contributing to human disease and phenotypic variability. Higher-resolution detection platforms and improved algorithms will further define our understanding of CNVs in control populations, leading to development of effective disease-association studies.

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