Table 2.

Transmission rates to affected versus unaffected siblings

Transmission	Affected (%)	Unaffected (%)	Ratio	P-value
DELs	44.2	43.8	1.01	0.90
DUPs	42.3	46.4	0.91	0.14

Analysis of transmission rates for CNVs within family trios, from parents to affected and unaffected children. For transmission percentages the denominator is the total number of possible transmissions for that category (i.e. the number of children multiplied by number of CNV-carrying parents in each family, summed across all CNVs). Additional data for de novo and transmission rates can be found in Supplementary Material, Methods S9 and S10. Note that there are roughly four times more affected than unaffected children in the family dataset. Prior to generating these percentages, CNVs were excluded from CNVRs that did not have at least one CNV with a quality score above 90%.