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

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

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
  1. Case IDs with underline: samples tested by TaqMan CNV assays for validation
  2. asamples with called deletions in both genes (UPF2 and NUCB2)