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Copy number variations (CNVs) are deleted or duplicated segments of the genome, typically defined as including ≥1000 base pairs of DNA. Deletions and duplications smaller than this are called “indels.” The presence of CNVs in phenotypically normal individuals was not appreciated until 2004 with landmark papers by Iafrate and Sebat (Iafrate et al. 2004; Sebat et al. 2004). Like single-nucleotide polymorphisms (SNPs), CNVs are part of the normal variation between two individuals and may either be inherited from parents or appear de novo. A recent effort to map of CNVs across the human genome (Zarrei et al. 2015) estimated that between 4.8 and 9.5% of the genome varied due to CNVs in healthy individuals, with the number of CNVs falling between roughly 11,500 and 24,000.
The importance of CNVs for ASD was first noted in 2007 by Sebat (Sebat et al. 2007). This study focused on large de novo CNVs (i.e., not present in either parent). These large de novo CNVs were...
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Willsey, A.J., Morris, M.T. (2020). Copy Number Variation. In: Volkmar, F. (eds) Encyclopedia of Autism Spectrum Disorders. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-6435-8_1995-3
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DOI: https://doi.org/10.1007/978-1-4614-6435-8_1995-3
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