For autism, three studies have reported association with a rare (1% of cases), large, high-penetrance deletion on chromosome 16p11.2. (65-67) There is also support for the hypothesis of an excess of rare, mostly de novo CNVs in around 10% of cases, although their role in autism remains to be proven.(64, 65, 68) Autism GWAS of common SNPs have yet to be reported.
