Overall, we found no statistically significant differences in rare CNV burden in cases versus controls, even using a nominal uncorrected p-value of 0.05. This result did not vary when we examined de novo or transmitted CNVs or proportions of deletions or duplications separately (Figure S4, Table S3 in Supplement 1). We conducted an exploratory analysis evaluating multiple types of rare CNVs, including those that map to coding regions of the genome, those that overlap exons, and those that overlap genes expressed in human brain. No subgroup was significantly overrepresented in cases versus controls (Figure S4, Table S3 in Supplement 1). We did observe larger (mean size: 14Mb versus 662.9kb) and more gene-rich (mean gene number: 28.0 versus 6.4 genes per CNV) rare de novo CNVs in cases versus controls, a pattern seen in other neuropsychiatric disorders (38). However, these differences were not statistically significant (p=0.3 using two-tailed t-test for each comparison), likely due to the small number of observations in each group (n=5 in cases, n=4 in controls). Similarly, neither mean CNV size (220kb versus 150kb) nor mean gene content
