Table 5.
CNVs detected by WGS
| Chr | Start | End | Length | Type | Ratio | Cutoff | Gene |
|---|---|---|---|---|---|---|---|
| 2 | 99572631 | 100558590 | 985959 | Del*1 | 0.45 | > 100 kb | REV1 (NM_001037872, NM_016316); AFF3 (NM_001025108, NM_002285); TSGA10 (NM_182911, NM_025244); C2orf15 (NM_144706); LIPT1 (NM_015929, NM_145197, NM_145198, NM_145199, NM_001204830); MITD1 (NM_138798); MRPL30 (NM_145212); LYG2 (NM_175735); LYG1 (NM_174898); TXNDC9 (NM_005783); EIF5B (NM_015904) |
| 4 | 70121496 | 70235854 | 114358 | Del*1 | 0.63 | > 100 kb | UGT2B28(NM_001207004, NM_053039) |
| 8 | 39,229,215 | 39387492 | 158277 | Del*1 | 0.43 | > 100 kb | NULL |
| 6 | 11392006 | 11454521 | 62515 | Dup*3 | 1.37 | / | NULL |
| 7 | 102110025 | 102207359 | 97334 | Dup*3 | 1.86 | / | LRWD1(NM_152892); POLR2J(NM_006234); POLR2J3(NM_001097615); SPDYE2(NM_001031618); SPDYE2L(NM_001166339) |
| 9 | 210770 | 269060 | 58290 | Dup*3 | 1.17 | / | C9orf66 (NM_152569); DOCK8(NM_203447); |
| 17 | 34485533 | 34579126 | 93593 | Del*1 | 0.84 | / | TBC1D3B(NM_001001417); CCL3L3(NM_001001437); CCL3L1(NM_021006); CCL4L1(NM_001001435); CCL4L2(NM_207007) |
| 19 | 53931213 | 54006794 | 75581 | Dup*3 | 1.42 | / | ZNF761(NM_001008401); ZNF813(NM_001004301) |
Del*1 represents one copy and Dup*3 represents three copies