Copy-number variation: a new pattern of structural diversity in genome

Abstract

Copy number variation (CNV) is increasingly recognized as a source of inter-individual differences in genome sequence and has been proposed as a driving force for genome evolution and phenotypic variation. Many CNVs resulted in different levels of gene expression, which may account for a significant proportion of normal phenotypic variation and human diseases. This review unveiled the research process and study strategy of CNVs. Subsequently, the potential mechanisms of CNV formation and its clinical implications were discussed. In addition, the first-generation copy number variation map of the human genome was introduced, which demonstrated that DNA copy number variation was associated with specific chromosomal rearrangements and genomic disorders.