Skip to main content

Table 1 Summary of CNV statistics between groups

From: Analysis of common genetic variation and rare CNVs in the Australian Autism Biobank

Group n_all n_ind n CNV % with CNV No. median No. mean ASD/ID CNV del ASD/ID CNV dup ASD/ID/DD genes del ASD/ID/DD genes dup
ASD 885 263 330 29.72 0 0.37 11 4 5 3
FTR 504 134 167 26.59 0 0.33 0 0 1 0
MTR 752 232 280 30.85 0 0.37 3 0 3 0
SIB 218 57 68 26.15 0 0.31 0 0 0 0
UNR 116 37 40 31.90 0 0.34 0 0 0 0
  1. n_all, number of individuals within the entire group; n_ind, number of individuals with a rare exonic CNV in the group; n_CNV, number of rare exonic CNVs in that group; % with CNV, % of individuals with a rare exonic CNV. no. median, median number of rare exonic CNVs; no. mean, mean number of rare exonic CNVs; ASD/ID CNV del, number of rare exonic deletion CNVs overlapping with the ClinGen + DECIPHER deletion CNV set; ASD/ID CNV dup, number of rare exonic duplication CNVs overlapping with the ClinGen + DECIPHER duplication CNV set; ASD/ID/DD genes del, number of rare exonic deletion CNVs overlapping with the Satterstrom et al. (2020) + DDD (2017) gene set; ASD/ID/DD genes dup, number of rare exonic duplication CNVs overlapping with the Satterstrom et al. (2020) + DDD (2017) gene set (100% overlap required)