Gender, age and inheritance status by carrier group and ascertainment
| CNV | Carrier group | No. | Sex ratio | Mean age, years (SD) | De novo frequency, no. (95% CI) | ||
| M | F | M/F ratio (95% CI), P value | |||||
| Deletion | All probands | 326 | 200 | 126 | (0.56 to 0.67), 4.9e−05 | 8.7 (9.1) | 5.9%, 8/136 (2.6 to 11.3) |
| Probands +NDD | 266 | 179 | 87 | (0.61 to 0.73), 1.8e−08 | 9.3 (7.3) | 7.4%, 8/108 (3.3 to 14.1) | |
| Probands −NDD | 60 | 21 | 39 | (0.24 to 0.48), ns | 8.9 (14.5) | 0/28 | |
| Relative carriers | 65 | 32 | 33 | 1.0, ns | 32.0 (15.9) | 0/15 | |
| Duplication | All probands | 176* | 110 | 65 | (0.55 to 0.70), 8.3e−04 | 7.8 (9.0) | 2.2%, 1/46 (0.1 to 11.5) |
| Probands +NDD | 139* | 91 | 47 | (0.57 to 0.74), 2.3e−04 | 8.7 (7.9) | 2.4%, 1/42 (0.1 to 12.6) | |
| Probands −NDD | 37 | 19 | 18 | 1.0, ns | 9.0 (12.6) | 0/4 | |
| Relative carriers | 38 | 19 | 19 | 1.0, ns | 32.0 (16.2) | 0/8 | |
*The sex of one duplication proband is unknown.
CI, confidence interval; F, female; M, male; −NDD, probands not ascertained for NDD; +NDD, probands ascertained for neurodevelopmental disorder; SD, standard deviation; ns, not significant.