Figure 4

Phenotype and familial CNV association analysis. Prevalence of abnormal coarse phenotypes in individuals with familial CNVs (20 cases) compared with those containing only common CNVs (40 cases). Two individuals with both de novo and familial CNVs were removed from the analysis. The phenotypes with a prevalence >95% or <5% in the whole cohort (78 cases) were excluded from calculation.