拷贝数变异(copy number variation,CNV)是当前国际研究的热点,它是一种大小介于1kb到3Mb之间的DNA片段的缺失、重复、倒位和易位,在人群和基因组中都分布广泛,被认为是个体间基因差异的重要来源。本文从CNV在人类基因组中的存在、形成机制、对疾病和表型的影响、检测和分析以及前景等方面综述了CNV的研究进展。 Copy number variation (CNV) is a hot issue in current international research. It is a deletion, duplication, inversion and translocation of DNA fragments ranging in size from 1 kb to 3 Mb, both in the human population and in the genome Broad, is considered to be an important source of genetic differences between individuals. This review summarizes the research progress of CNV in the aspects of CNV’s existence in human genome, its formation mechanism, its influence on disease and phenotype, its detection and analysis and its prospect.