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Table 4 Characteristics of probands with potentially damaging CNV or SNV

From: Prevalence and phenotypic impact of rare potentially damaging variants in autism spectrum disorder

  WES probands
with pdSNV ASC102 list n (%)
CMA probands with pdCNV n (%) WES and CMA probands
with pdCNV or pdSNV ASC102 list n (%)
Total (%) 69 (9%) 105 (11%) 123 (18%)
 Average diagnosis age (SD) 7.3 (7.3) 7.1 (8.1) 6.4 (7.4)
Females (n, (%)) 20 (9%) 36 (12%) 35 (19%)
 Average diagnosis age (SD) 8.2 (7.0) 69 (7.5) 6.2 (6.6)
Males (n, (%)) 49 (8%) 69 (10%) 88 (18%)
 Average diagnosis age (SD) 6.9 (7.5) 6.7 (7.5) 6.9 (7.6)
  1. pdCNV potentially damaging copy number variation, pdSNV potentially damaging single nucleotide variation