Open AccessCopy-number variation: a new pattern of structural diversity in genome
Author(s) -
Zhijun Wu,
Wei Jiang
Publication year - 2009
Publication title -
yichuan
Language(s) - English
Resource type - Journals
ISSN - 0253-9772
DOI - 10.3724/sp.j.1005.2009.00339
Subject(s) - copy number variation , biology , genome , structural variation , human genome , variation (astronomy) , genetics , phenotype , gene dosage , human genetic variation , gene , copy number analysis , comparative genomic hybridization , computational biology , evolutionary biology , gene expression , physics , astrophysics
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.