Table III.

Distribution of Autosomal CNVs in TS Cases and Controls

	All			>200 Kb			rare events			rare genic
	TS	Controls	P	TS	Controls	P	TS	Controls	P	TS	Controls	P
Total autosomal CNVs	1282	56425	0.003	303	13419	0.004	419	17541	0.005	179	7528	0.4
Deletions	409	29247	0.0009	86	3398	0.03	143	9815	0.0003	47	4382	0.002
Duplications	873	27178	0.0002	217	10021	0.003	276	7726	0.0005	132	3146	1.0×10−6

TS: 418 Turner syndrome genotypes; ETAAD: 110 early onset TAAD genotypes; Controls: 15,414 genotypes from four dbGAP datasets; P: P-values for comparisons with controls. TS CNV rates (total length of CNVs per individual or average size of CNVs) were uniformly increased across all CNV categories vs controls and were comparable to ETAAD CNV rates. In contrast, TS CNV rates were not significantly different from ETAAD CNV rates across all CNV categories (P=0.12-0.98).