Table 1. Repeats enriched and depleted in CNV breakpoints. The GC content and number of breakpoints are listed for the six CNV types.
CNV type | %GC | Breakpoints | Tandem repeats | G-quads | Alus |
Terminal deletion | 50.1 | 48 | 122 | 99** | 62 |
Inverted duplication with terminal deletion | 43.6 | 41 | 70 | 39* | 36* |
Translocation | 46.1 | 21 | 40 | 24 | 42 |
Interstitial deletion | 50.0 | 20 | 60 | 30 | 72** |
Interstitial duplication | 45.4 | 8 | 25 | 9 | 28** |
Terminal duplication | 41.0 | 2 | 1 | 0 | 2 |
Total | 140 | 318 | 201 | 242 |
The number of tandem repeats, G-quadruplexes, and Alus per type of CNV are shown. Significant depletion (*) and enrichment (**) for repeats were determined by binomial test p-values <.00278 (.05/18, based on Bonferroni adjustment for 18 tests).