Table 1.

Overview of samples and copy number variant (CNV) counts included in study

Sample num.	Sample ID	Sample source	Replicate sample count	False-positive CNV count	Known CNV count	Known CNVs	Known CNV count (incl. replicates)
1	NA24385	Coriell gDNA	1	1
2	NA02894	Coriell gDNA	1		1	57-kb del	1
3	NA04520	Coriell gDNA	1		1	88-kb del	1
4	NA05090	Coriell gDNA	1		1	63-kb del	1
5	NA06936	Coriell gDNA	1		1	13-Mb del	1
6	NA10989	Coriell gDNA	1		1	12-Mb del	1
7	NA13554	Coriell gDNA	1		1	42-kb del	1
8	NA02422	Coriell gDNA	1		1	Trisomy 18	1
9	NA02948	Coriell gDNA	1		1	Trisomy 13	1
10	NA05124	Coriell gDNA	1		1	756-kb dup	1
11	NA05966	Coriell gDNA	1		1	21-Mb dup	1
12	NA09326	Coriell gDNA	1		1	XYY	1
13	NA09367	Coriell gDNA	1		1	35-Mb dup	1
14	NA17867	Coriell gDNA	1		1	XXY	1
15	NA22397	Coriell gDNA	1		1	5-Mb dup	1
16	NA06918	Coriell gDNA	1		2	212-kb del 17-Mb del	2
17	NA07945	Coriell gDNA	1		2	232-kb del 11-Mb del	2
18	NA08331	Coriell gDNA	1		2	2-Mb del 12-Mb del	2
19	NA09216	Coriell gDNA	1		2	110-kb del 17-Mb del	2
20	NA50180	Coriell gDNA	1		3	1.5-Mb del 28-Mb del 431-kb dup	3
21	NA04099	Coriell gDNA	3		1	131-kb del	3
22	NA05115	Coriell gDNA	3		1	164-kb del	3
23	NA09981	Coriell gDNA	3		1	295-kb dup	3
24	NA10636	Coriell gDNA	3		1	19-Mb dup	3
25	NA12606	Coriell gDNA	3		1	40-Mb dup	3
26	Individual_1	Blood	3		1	60-kb del	3
27	Individual_2	Blood	3		1	437-kb dup	3
28	Individual_3	Blood	3		1	378-kb dup	3
29	Individual_4	Blood	3		1	114-kb del	3
30	Individual_5	Blood	3		1	124-kb dup	3
		TOTAL	50	1	35		55