关键词: 拷贝数变异, 遗传变异, 疾病

Abstract: Copy number variation (CNV) has recently gained considerable interest as a source of genetic variation likely to playing an important role in researching phenotypic diversity and evolution. CNV is a DNA segment ranging from kb to Mb. Much effort has been made in the identification and mapping of regions varying in copy numbers among normal individuals in human and a number of model organisms, using bioinformatics or hybridizationbased methods. The further researches have found that copy number variation is associated with mechanism of disease.In this paper, the outline, detection methods and research progress of the CNV are described and introduced, some existing problems in CNV research are presented, and the foregrounds of the research in human and animal diseases are prospected.

Key words: copy number variation, genetic variance, disease