Table 1.

Common autism associated CNVs.

Chromosomal locus	Genomic coordinates of	Proportion of patients with ASD	Penetrance	Source references
Del 1q21.1	GRCh38/hg38 chr1: 147, 105, 904–147, 922, 392	<10%	Reduced, 67% carrier parents are unaffected	Brunetti-Pierri et al. (2008), Mefford et al. (2008), Haldeman-Englert and Jewett (2011) and Bernier et al. (2016)
Del 15q11.2 (BP1-BP2)	GRCh38: 15: 20,500,000–25,500,000	27%	Reduced, 65% of carrier parents are unaffected	Butler (2017)
Del 15q13.3	GRCh38/hg38 chr15: 30,500,000–32,500,000	11%	Reduced but high, most carrier parents have some neuropsychological manifestations	van Bon et al. (2010) and Lowther et al. (2015)
Del 16p11.2	GRCh37/hg19 chr16: 29,606,852–30,199,855	24%	Reduced but high most carrier parents have some neuropsychological manifestations	Miller et al. (2009); Shinawi et al. (2010) and Hanson et al. (2015)
Del 16p12.2	GRCh37/hg19 chr16: 29,606,852–30,199,855	46%	Reduced but high, most carrier parents have some neuropsychological manifestations	(Girirajan et al. (2010); Girirajan et al. (2015))