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 |