Table 1.
NAHR rates at 4 hotspots
| Hotspot | Chr. | Repeat length (kb) |
Distance between repeats (Mb) |
Sequence similaritya (%) |
Average rate of deletionb (±SE) |
Average rate of duplicationb (±SE) |
Ratio of deletion:duplication |
|---|---|---|---|---|---|---|---|
| CMT1A-REP | 17p11.2 | 24 | 1.5 | 98.7 | 4.20×10−5 (± 2.99×10−6) | 1.73×10−5 (± 4.88×10−6) | 2.43 |
| AZFa-HERV | Yq11.21 | 10 | 0.8 | 94.0 | 2.16×10−5 (± 6.69×10−6) | 5.26×10−6 (± 1.58×10−6) | 4.11 |
| WBS-LCR | 7q11.23 | 143 | 1.5 | 99.6 | 9.55×10−6 (± 2.61×10−6) | 4.54×10−6 (± 8.04×10−7) | 2.10 |
| LCR17p | 17p11.2 | 124 | 5 | 98.6 | 1.87×10−6 (± 2.36×10−7) | 8.74×10−7 (± 1.10×10−7) | 2.14 |
Sequence similarity along the entire length of the duplicated sequence
Mean among 5 sperm donors