About CNV

The Copy Number Variant (CNV) module of AutDB Gene is a comprehensive, up-to-date collection of all copy number variants associated with autism spectrum disorders (ASD). It is integrated with other modules of AutDB Gene (Human Gene, Animal Model, Protein Interaction (PIN)).

CNVs are segments of DNA, typically > 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. CNVs are currently considered to be one of the most common, if not the most common, genetic causes of ASD, with 10-20% of cases believed to result from one or more copy number variants in the genome of an affected individual*. For this reason, the CNV module is envisioned to serve as a valuable resource for the ASD research community.

*Miles JH, McCathren RB, Stichter J,and Shinawi M. Autism Spectrum Disorders In: Pagon RA, Bird TD, Dolan CR, Stephens K, editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2003 Aug 27 [updated 2010 Apr 13]. PubMed