Table 1. Detection of dnCNVs from BAB3097 and BAB3596 by various array platforms and WGS; related to Data S1, S2 and Tables S1.
CNVs above the double line are from BAB3097; CNVs below the double line are from BAB3596. Dup, duplication; Trp, triplication; IDD, insertional double duplication; BD, BreakDancer.
| Locus | Size | Type | Array detection | WGS detection | Parent of Origin | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| 180k | 1M | 1M (cell*) | 4.2M | SNP 1M/2.6M | BD | Pindel | novo Break | ||||
| 1p36 | 6.4 Mb | Dup | Y | Y | Y | Y | Y | Y | N | Y | Pat |
| 3q13q21 | 956 kb | Dup | Y | Y | Y | Y | Y | Y | N | Y | Pat |
| 5p12 | 440 kb | Dup | N | Y | Y | Y | Y | Y | N | Y | Mat |
| 5q33q34 | 5.8 Mb | IDD | Y | Y | Y | Y | Y | Y | Y | Y | Pat |
| 9p13 | 1.2 Mb | Trp | Y | Y | Y | Y | Y | Y | N | Y | Mat |
| 17p11p12 | 6.0 Mb | Dup | Y | Y | Y | Y | Y | Y | N | Y | Mat |
| 22q13 | 309 kb | IDD | N | Y | Y | Y | Y | Y | Y | Y | Mat |
| 1p34p35 | 1.7 Mb | Dup | Y | Y | Y | Y | Y | Y | N | Y | Mat |
| 3p14p21 | 4.2 Mb | Dup | Y | Y | Y | Y | Y | Y | N | Y | Mat |
| 8q24 | 4.5 Mb | Dup | Y | Y | Y | Y | Y | Y | Y | Y | Mat |
| 10q24q25 | 4.7 Mb | Dup | Y | Y | Y | Y | Y | Y | N | Y | Mat |
| 16p11 | 322 kb | IDD | Y | Y | Y | Y | Y | Y | N | Y | Pat |
| 16q23 | 4.2 Mb | IDD | Y | Y | Y | Y | Y | Y | N | Y | Mat |
| 16q24 | 312 kb | Dup | Y | Y | Y | Y | Y | Y | N | Y | Mat |
| 19q13 | 4.3 Mb | Dup | Y | Y | Y | Y | Y | Y | N | Y | Mat |
| Xp11 | 214 kb | Dup | N | Y | Y | Y | Y | Y | Y | Y | Mat |
*
DNA was extracted from cultured lymphoblastoid cell lines of the individuals and analyzed on the microarray; for the other columns under “Array detection”, DNA was extracted from blood directly.