Copy Number Variation

Copy Number Variation (CNV) is a form of structural variation in the human genome. It involves the duplication or deletion of specific genetic elements that range in size from single nucleotide polymorphisms (SNPs) up to whole chromosomes. This variation can lead to changes in gene expression and, in the case of gene deletions, can be a cause of genetic disease. CNV is used to diagnose and monitor diseases, monitor response to therapies, and develop personalized medicine. It has become an important tool in medical diagnostics and is expected to become even more important as new methods and technology become available.