In-house bioinformatics script results for TNNT1 CNV familial segregation analysis
| Chr | Start | Stop | Region ID | Labels | I401 | I402 | I403 |
| 19 | 55 648 421 | 55 648 630 | 42 609 770 | TNNT1NM_0 03 283–11 | 1.08 | 1.00 | 1.15 |
| 19 | 55 649 279 | 55 649 492 | 42 609 771 | TNNT1NM_0 03 283–10 | 0.91 | 0.90 | 1.09 |
| 19 | 55 652 201 | 55 652 378 | 42 609 772 | TNNT1NM_0 03 283–9 | 0.00 | 0.46 | 0.63 |
| 19 | 55 652 504 | 55 652 720 | 42 609 773 | TNNT1NM_0 03 283–8 | 0.00 | 0.53 | 0.60 |
| 19 | 55 653 175 | 55 653 338 | 42 609 774 | TNNT1NM_0 03 283–7 | 0.96 | 1.06 | 0.86 |
The in-house bioinformatics script for CNV analysis showed a ratio relative coverage of 0 for TNNT1 exon 8 and exon 9 in I401 sample (patient 1), in agreement with the homozygous deletion, 0.53 and 0.46, respectively, in I402 sample (father), and 0.60 and 0.63, respectively, in I403 sample (mother), in agreement with a heterozygous deletion of these exons in parents.
CNV, copy number variation; TNNT1, Troponin T type 1.