Biodiv Sci ›› 2008, Vol. 16 ›› Issue (4): 399-406.DOI: 10.3724/SP.J.1003.2008.08142

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Copy-number variant: new annotation for genetic variation across genomes

Rao Yousheng1,2, Zhang Xiquan1,*()   

  1. 1 College of Animal Science, South China Agricultural University, Guangzhou 510642
    2 Department of Biological Technology, Jiangxi Institute of Education, Nanchang 330029
  • Received:2008-06-17 Accepted:2008-07-12 Online:2008-07-20 Published:2008-07-20
  • Contact: Zhang Xiquan


A CNV (copy-number variant), also termed CNP (copy-number polymorphism), is a segment of DNA ranging from 1 kb to 3 Mb that is present in a variable number of copies compared to a reference genome. CNVs are widely distributed across the human genome, encompass more nucleotide content per genome than total SNPs (single nucleotide polymorphisms), and increase genetic diversity dramatically. CNVs may be important for genome organization within species, molecular evolution and phylogenesis, as well as gene expression and regulation in a specific region of a genome. From four aspects including CNV polymorphism, CNV test methods, association analyses between CNV polymorphism and complex traits, and CNV evolution, we provide a comprehensive review on the achievement of CNV studies, and offer perspective on CNV studies on animal genomes.

Key words: copy-number variant, polymorphism, association study, evolution, perspective