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About the Copy Number Variant Module

The Copy Number Variant (CNV) module of SFARI Gene is a comprehensive, up-to-date collection of all known CNVs that have been 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. At least six recurrent CNVs are among the most frequently identified genetic contributors to ASD*. For this reason, the CNV module of SFARI Gene serves as a valuable resource for the ASD research community.

*Sanders SJ et al. Insights into autism spectrum disorder genomic architecture and biology from 71 risk loci. Neuron 87, 1215-1233 (2015).

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