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Copy Number Variation traditionally refers to segmental duplications: heritable, long stretches of DNA that are represented in multiple copies in individuals and populations  However, the advent of genomic sequencing technologies has seen the term used to describe everything from genotypes of single nucleotide polymorphisms, to being used to describe the thoroughness of genome sequencing assays.  The ambiguity of use of the term has resulted in such confusion that investigators claiming to be studying one type of "copy number variation" will design their studies using a technology that measures something completely different.

This project is to document the various uses of the term Copy Number Variation (CNV) and to provide examples, in the way of publications, where a technological solution to measure CNV is mismatched with the intent of the study.

 

 

 

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