Copy number variation (CNV) is an important source of genomic variation. Characterizing CNVs in phe-notypically normal individuals is important for understanding the functional significance of these variants. Many studies have reported CNVs in controlpopulations, 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 pop-ulation 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 andphenotypic 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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