Table 1.
Calls on DRC1 CNV by NGS
| Family | Patient | Sex |
Age (years) |
Length (bp) |
Cytoband | Confidence | Precision | |
|---|---|---|---|---|---|---|---|---|
| 1 | 16162 (III‐1) | F | 25 | 22,582 | 2p23.3 (26624799–26647381) × 0 | 75.8799 | 83.5775 | † |
| 17002 (III‐2) | M | 23 | 22,582 | 2p23.3 (26624799–26647381) × 0 | 75.9125 | 83.61 | † | |
| 16163 (III‐3) | F | 20 | 22,582 | 2p23.3 (26624799–26647381) × 0 | 75.9125 | 83.61 | † | |
| 2 | 4D4C4733 (III‐1) | F | 16 | 22,582 | 2p23.3 (26624799–26647381) × 0 | 75.9125 | 83.61 | † |
| 3 | 17B630C2 | M | 5 | 22,582 | 2p23.3 (26624799–26647381) × 0 | 75.8953 | 68.1978 | † |
| 342E9543 | M | 1 | 22,582 | 2p23.3 (26624799–26647381) × 0 | 75.7308 | 83.4283 | † | |
| 4 | J03 | F | 64 | 22,561 | 2p23.3 (26624795–26647356) × 0 | 44.7066 | 60.0954 | ‡ |
| J04 | F | 61 | 22,561 | 2p23.3 (26624795–26647356) × 0 | 44.7067 | 60.096 | ‡ | |
| 5 | 0D389546 | F | 18 | 22,561 | 2p23.3 (26624795–26647356) × 0 | 44.4337 | 58.5747 | ‡ |
| 6 | 1BD3A017 | M | 42 | 22,561 | 2p23.3 (26624795–26647356) × 0 | 44.7067 | 60.0958 | ‡ |
| 7 | 16039 | F | 32 | 22,561 | 2p23.3 (26624795–26647356) × 0 | 44.7061 | 60.0936 | ‡ |
| 8 | 16052 | F | 12 | 22,561 | 2p23.3 (26624795–26647356) × 0 | 44.7072 | 60.098 | ‡ |
| 9 | AEB51AF4 | F | 7 | 22,561 | 2p23.3 (26624795–26647356) × 0 | 44.7061 | 60.0962 | ‡ |
| 10 | 16149 | F | 54 | 22,582 | 2p23.3 (26624799–26647381) × 0 | 75.9125 | 83.61 | † |
| 11 | 17028 | F | 3m | 22,582 | 2p23.3 (26624799–26647381) × 0 | 75.9125 | 83.61 | † |
| 12 | 17059 | M | 21 | 22,582 | 2p23.3 (26624799–26647381) × 0 | 75.9125 | 83.61 | † |
| 13 | 17061 | F | 11 | 22,582 | 2p23.3 (26624799–26647381) × 0 | 75.9125 | 83.61 | † |
| 14 | 18003 | F | 12 | 22,582 | 2p23.3 (26624799–26647381) × 0 | 68.3116 | 76.0091 | † |
| 15 | 18046 | F | 11 | 22,582 | 2p23.3 (26624799–26647381) × 0 | 75.9125 | 83.61 | † |
| 16 | 18047 | M | 44 | 22,582 | 2p23.3 (26624799–26647381) × 0 | 75.9125 | 83.61 | † |
| 17 | 18097 | F | 25 | 22,582 | 2p23.3 (26624799–26647381) × 0 | 75.9125 | 83.61 | † |
Confidence is the log likelihood that the called copy number state is not normal ploidy, that is, two on autosomes (reflects the likelihood of the region's ploidy number being different from the normal ploidy of 2).
Precision is the log likelihood that the called copy number state is different from the next closest copy number state (reflects the likelihood that the precise ploidy number is correct). Analyses were performed using either the PCD gene panel (†) or whole‐exome sequencing (‡).