Table 1. 15q13.3 structural variant events.
Different structural rearrangements at the 15q13.3 region and the frequency of each rearrangement are shown.
| Species | Structural variant | Size | GRCh37 coordinates | Disease/Predisposition | Frequency |
|---|---|---|---|---|---|
| Human | 15q13.3 microdeletion | 2 Mbp | Chr15: 30.7–32.7 Mbp; Chr15: 30.9–32.9 Mbp | intellectual disability, epilepsy, autism and schizophrenia | 0.27% (42/15,767) cases; 0% (0/8,329) controls * |
| Human | 15q13.3 microduplication | 2 Mbp | Chr15: 30.7–32.7 Mbp; Chr15: 30.9–32.9 Mbp | intellectual disability, epilepsy and autism | 0.13% (20/15,767) cases; 0.3% (3/8,329) controls * |
| Human | γ inversion (BP4-BP5) | 1.8 Mbp | Chr15: 30.80–32.70 Mbp | predisposition to CHRNA7 microdeletion | 6% (haplotype freq.) |
| Human | β inversion (BP4) | 130 kbp | Chr15: 30.70–30.84 Mbp | - | 10% (haplotype freq.) |
| Human | CNPα duplication | 300 kbp | Chr15: 30.37–30.67 Mbp Chr15: 32.45–32.75 Mbp |
- | CN=4 77%; CN=3 19%; CN=2 2%; CN=5 2% |
| Human | CNPβ duplication | 210 kbp | Chr15: 30.70–30.91 Mbp Chr15: 32.68–32.89 Mbp |
- | CN=8 72%; CN=7 21%; CN=9 5%; CN=6 2% |
| Human | CHRNA7-adj duplication | 124 kbp | Chr15: 30.97–31.09 Mbp | predisposition to CHRNA7 microdeletion | fixed |
| Human | ARHGAP11B duplication | 39 kbp | Chr15: 30.90–30.93 Mbp | - | fixed |
| Chimpanzee | β inversion (BP5) | 120 kbp | Chr15: 32.7–32.8 Mbp | - | ND |
| Gorilla | γ inversion | 1.9 Mbp | Chr15: 30.40–32.90 Mbp | - | fixed |
| Gorilla | inversion of a portion of α(BP5) | 80 kbp | Chr15: 32.61–32.69 Mbp | - | ND |
| Gorilla | partial duplication of α (BP4) | 80 kbp | Chr15: 30.37–30.45 Mbp | - | fixed |
*
Cooper et al., 2011