Table 2 Overview of the 80 validated CNVs detected by CMA and WGS in 68 patients
Type | Found by TIDDIT | Found by CNVnator | Found by CMA |
|---|---|---|---|
Deletions | |||
 Recurrent [7] | 0 (0%) | 7 (100%) | 7 (100%) |
 Non-recurrent [47] | 39 (83%) | 44 (94%) | 43 (91%) |
 Total [54] | 39 (72%) | 51 (94%) | 50 (93%) |
Duplications | |||
 Recurrent [5] | 0 (0%) | 5 (100%) | 5 (100%) |
 Non-recurrent [18] | 15 (83%) | 16 (89%) | 15 (83%) |
 Total [23] | 15 (65%) | 20 (87%) | 21 (91%) |
Trisomies | |||
 Total [3] | 3 (100%) | 3 (100%) | 3 (100%) |