Table 2. .
Deletions and Duplications[Note]
| SNP |
LOHa |
|||||||||||
| Patient ID |
Gain or Loss | Chromosome | Start | End | Region Length (Mb) |
No. of SNPs | No. of Genes | Segmental Duplications | Paternal | Maternal | No. of qPCRs | Confirmation by Second Hybridization |
| 27384 | Loss | 1q31.1-31.3 | rs10494585 | rs10494695 | 7.5 | 464 | 17 | No | 48 | 0 | 1 | Yes |
| 29922 | Loss | 8p23.1 | rs2945251 | rs2466115 | 3.9 | 177 | 34 | Yes | NA | 0 | 3 | No |
| 30437 | Loss | 2p25.3-25.1 | rs2313466 | rs1964092 | 3.8 | 193 | 4 | No | 0 | 18 | 1 | No |
| 27737 | Gain | 17p11.2 | rs4073940 | rs1373147 | 3.2 | 29 | 49 | Yes | NA | … | 3 | Yes |
| 30375 | Loss | 3p25.3-25.2 | rs10510400 | rs10510422 | 2.7 | 98 | 39 | No | 8 | 0 | 3 | No |
| 28735 | Loss | 12p13.33 | rs953385 | rs2283285 | 2.0 | 62 | 18 | No | 4 | 0 | 3 | No |
| 28430 | Loss | 15q25.2 | rs17158372 | rs10520569 | 1.4 | 27 | 11 | Yes | 0 | 2 | 3 | Yes |
| 29836 | Gain | Xp22.31 | rs719632 | rs10521669 | 1.4 | 31 | 5 | Yes | … | … | 3 | Yes |
| 30428 | Loss | 17q21.31 | rs436667 | rs1918798 | 0.5 | 38 | 7 | Yes | 26 | 0 | 1 | Yes |
| 28701 | Gain | 13q12.11 | rs9315234 | rs4570685 | 0.5 | 23 | 5 | No | … | … | 3 | Yes |
| 29195 | Loss | 2q23.1 | rs2890919 | rs10497034 | 0.2 | 13 | 1 | No | 0 | 0 | 2 | Yes |
Note.— NA = not available.
a
The number of SNPs for which a paternal or maternal allele is missing. LOH = loss of heterozygosity.