Table 2.

Rare germline CNV’s detected in 16 of 20 patients suffering from one cancer (1N). Genes indicated in bold are cancer related (Pubmed 2019; see further information in Online Resource 1)

Patients 1N	Type	Chromosome position [hg19]	Number of genes/probes	Genes	1000 GHS controls
1	Del	4q22.3(98,338,184-98,360,773)x1	1/16	STPG2-AS1	0
2	Del	4q31.21(141,590,313-141,612,737)x1	1/25	TBC1D9	0
3	Dupl	3p24.1(28,355,385-28,522,017)x3	3/65	AZI2, CMC1, ZCWPW2	0
4	Dupl	16p13.11(16,294,705-16,798,651)x3	5/30	PKD1P1 (pseudogene), MIR3179-2, MIR3670-2, MIR3180-2, MIR6511A2	0
5	Del	8q11.21q11.23(50,048,130-53,211,910)x1	3/2006	PCMTD1, PXDNL, ST18	0
6	Dupl	9p24.1(5,221,817-5,408,358)x3	2/145	PLGRKT, INSL4	0
7	Del	17p13.3(513-38,924)x1	1/19	DOC2B	0
	Del	4q22.1(88,176,912-88,295,008)x1	2/61	HSD17B11, HSD17B13	0
8	Dupl	10q25.1(108,746,879-108,777,331)x4	1/25	SORCS1 (intron)	0
	Del	11q14.3(89,438,613-89,461,619)x1	1/19	TRIM77	2
	Del	16q23.1(78,057,102-78,117,280)x1	1/48	CLEC3A	2
9	Dupl	6q14.3(86,136,432-86,346,699)x3	3/87	NT5E , SNX14, SYNCRIP	0
	Del	10q22.1(74,515,548-74,560,343)x1	1/23	MCU (intron)	0
	Del	19p12(22,159,002-22,179,901)x1	1/10	ZNF208	0
	Del	6p24.3(10,468,665-10,535,651)x1	1/78	GCNT2	5
10	Dupl	3q26.31(173,247,466-173,289,668)x3	1/23	NLGN1 (intron)	2
11	Dupl	3p21.31(47,799,742-47,849,936)x3	2/50	DHX30, SMARCC1	0
	Dupl	21q22.12(37,481,942-37,617,188)x3	3/96	CBR3-AS1, CBR3, DOPEY2	0
12	Del	2p21(45,312,361-45,504,006)x1	1/170	LINC01121	0
13	Dupl	13q14.3(52,923,759-53,053,990)x3	3/47	CKAP2, THSD1, VPS36	0
	Dupl	2q23.3(153,212,500-153,273,886)x3	1/54	FMNL2 (intron)	0
14	Dupl	6q16.2q16.3(100,277,839-100,643,681)x3	1/204	MCHR2	0
15	Del	19q13.12(35,774,555-35,795,979)x1	2/14	HAMP, MAG	0
5, 3	Dupl	19q13.42(54,716,827-54,741,307)x3	1/26	LILRB3	2
16, 14	Dupl	22q11.21(21,567,218-21,845,282)x3	5/35	HIC2, PI4KAP2 (pseudogene), POM121L8P (pseudogene), RIMBP3B, RIMBP3C	4
4, 5	Del	14q11.2(24,431,136-24,499,742)x1	1/49	DHRS4L2	0