Genomic copy number variation association study in Caucasian patients with nonsyndromic cryptorchidism

BMC Urology

Table 2 Relevant validation information for genes (UPF2 and NUCB2) passed CNV QC and signal intensity examination

Group	Gene Name	CNV (hg19)	Probe # in overlapping CNV region	CNV size (bp)	TaqMan CNV assays and location	Cases with deletion (CNV confidence score)
Group 1	UPF2	chr10:12028228–12076043	10	47815	Hs04383175_cn; Chr10:12063665	D10 (26)^a, D29 (55)^a, D34 (46), 1495 (27)
	NUCB2	chr11:17300844–17320797	5	19953	Hs06286795_cn; Chr11:17306162	D8 (24), D10 (28)^a, D24 (24), D29 (30)^a, D33 (26), D132 (27), D139 (30)
Group 2	UPF2	chr10:12062959–12075960	3	13001	Same as UPF2 assay in group 1	7279 (15), 7334 (12)^a, 7338 (23), 7339 (16), 7341 (14), 7370 (26)^a, 7453 (16), 7475 (24), 7479 (17)
	NUCB2	chr11:17332461–17339127	4	6666	Hs06269635_cn; Chr11:17336218	7334 (17)^a, 7361 (14), 7370 (12)^a

ISSN: 1471-2490