About the Copy Number Variant Module

The current version of the Copy Number Variant (CNV) module of SFARI Gene focuses on curation of recurrent CNVs associated with ASD.

CNVs are segments of DNA, typically greater than 1,000 basepairs in length, that vary in number from person to person. These submicroscopic deletions and duplications are increasingly thought to be involved in the pathogenesis of a wide range of human diseases, including neuropsychiatric disorders such as ASD.

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