Table 3.

Copy number estimates of the DJs across the RPC cohort (n=4,187) and UK Biobank WGS cohort (n=490,369). Regardless of the cohorts, estimated ROBs with 8 DJs had the smallest fraction of 0.11–0.12%. The largest fraction of samples were observed with 10 DJs (87.17–88.70%), followed by 11 DJs (7.81–9.00%), 9 DJs (2.81–3.45%), and more than 11 DJs (0.26–0.56%), indicating loss of one or gains of one or more DJs are relatively common.

Cohort	Num. of DJs	Num. of samples	%	XX	%	XY	%
RPC	<8	0	0.00%	0	0.00%	0	0.00%
	8	4	0.10%	3	0.14%	1	0.05%
	9	140	3.34%	81	3.82%	59	2.86%
	10	3,659	87.39%	1,848	87.05%	1,811	87.74%
	11	373	8.91%	186	8.76%	187	9.06%
	>11	11	0.26%	5	0.24%	6	0.29%
	Total	4,187	100.00%	2,123	100.00%	2,064	100.00%
RPC (Parents only)	<8	0	0.00%	0	0.00%	0	0.00%
	8	3	0.11%	2	0.15%	1	0.08%
	9	90	3.45%	51	3.91%	39	2.98%
	10	2,277	87.17%	1,135	87.04%	1,142	87.31%
	11	235	9.00%	113	8.67%	122	9.33%
	>11	7	0.27%	3	0.23%	4	0.31%
	Total	2,612	100.00%	1,304	100.00%	1,308	100.00%
UK Biobank	<8	9	0.002%	6	0.002%	3	0.00%
	8	583	0.12%	312	0.12%	271	0.12%
	9	13,778	2.81%	7,460	2.80%	6,318	2.82%
	10	434,951	88.70%	235,927	88.70%	199,024	88.70%
	11	38,291	7.81%	20,791	7.82%	17,500	7.80%
	>11	2,757	0.56%	1,500	0.56%	1,257	0.56%
	Total	490,369	100.00%	265,996	100.00%	224,373	100.00%