Fig. 2

CNV length vs. phenotype relationships. a Histogram for the number of phenotypes observed in DECIPHER patients. b Boxplots of the number of phenotypes observed in patients showing inherited or de novo CNVs (because this CNV was absent in parents). For this plot, we only took into account those patients for whom only one CNV was detected. c Length CNV distributions for control (black line) and case (red line) populations. d Length CNV distributions in cases for de novo CNVs (orange line) and inherited CNVs by parents that do not manifest any pathogenic phenotype (green line)