Table 1.
Selected case-specific copy number variation loci
| Locus | Position (start–end) | Gene | Gain_case | Loss_case | Gain_control | Loss_control |
|---|---|---|---|---|---|---|
| 1p36.21 | 13377035–13538299 | PRAMEF8,PRAMEF9,PRAMEF13,PRAMEF19,PRAMEF16,PRAMEF20 | 6 | 0 | 0 | 0 |
| 1p36.13 | 17262235–17295200 | CROCC | 4 | 0 | 0 | 0 |
| 1q25.1 | 174802140–174802829 | RABGAP1L | 0 | 4 | 0 | 0 |
| 2p11.2-p11.1 | 91801473–92136779 | LOC654342,Mir_544,GGT8P,ACTR3BP2 | 7 | 0 | 0 | 0 |
| 3p12.3 | 75639495–75930920 | MIR1324,FLJ20518,LOC401074,ZNF717,MIR4273 | 10 | 0 | 0 | 0 |
| 3q22.1 | 129806912–129914958 | ALG1L2, FAM86HP | 27 | 1 | 0 | 0 |
| 4p16.1 | 9486075–9744591 | MIR548I2,AB059369 | 8 | 1 | 0 | 0 |
| 4p16.3 | 3885796–4190560 | DQ584669,FAM86EP,BC042823,OTOP1 | 14 | 0 | 0 | 0 |
| 4q13.2 | 69371991–69410211 | UGT2B15, UGT2B17 | 0 | 5 | 0 | 0 |
| 6q26 | 162187125–162680305 | PARK2 | 1 | 3 | 2 | 0 |
| 8p23.1 | 12542721–12587390 | LONRF1,MIR3926-1,MIR3926-2 | 5 | 0 | 0 | 0 |
| 9q13 | 68176154–68683835 | AK308561,BC080605,LOC642236 | 17 | 0 | 0 | 0 |
| 12p13.31 | 8378239–8536600 | LINC00937, FAM86FP, FAM90A1 | 5 | 0 | 0 | 0 |
| 14q11.2 | 24429298–24513905 | DHRS4,DHRS4L2,DHRS4L1 | 1 | 11 | 5 | 10 |
| 19q13.42 | 55360538–56717229 | >60 genes | 4 | 0 | 0 | 0 |
| 21q11.2 | 14456404–14594223 | ANKRD30BP2 | 8 | 1 | 0 | 0 |
| 22q11.23 | 24396802–24404830 | GSTTP2 | 0 | 4 | 0 | 0 |