Table 2.
Overview of the characteristics of the identified CNVs
| Parameter | BAV/TAA cohort (n = 95) | |
|---|---|---|
| Unfiltered data | Candidate CNVs | |
| Identified CNVs | 1 390 | 7 |
| Duplicated regions | 56% | 86% |
| Average minimal size | 134 386bp | 138 788bp |
| Average maximal size | 948 408bp | 311 699bp |
| Deleted regions | 44% | 14% |
| Average minimal size | 48 075bp | 163 476bp |
| Average maximal size | 119 530bp | 360 167bp |
| Genes affected by CNVa | 1 638 | 25 |
| Recurrent genes affected by CNV | 71% | 0% |
aCalculated on the minimal size of the called CNV