New Progress in the Copy Number Variation Study

Copy number variation(CNV) is increasingly recognized as a source of inter-individual differences in genome sequence and is proposed as a driving force for genome evolution and phenotypic variation.Many CNVs result 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 forensic applications 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.