Table 2.
Prevalence estimates of recurrent NDD CNVs spanning 13 regions associated with neurodevelopmental disorders.
| Recurrent CNVs | De novo CNVs | Maternal CNVs | Paternal CNVs | All CNVs | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Position (hg37) | Description | Length (Mb) | N | Prev (95% C.I.) | Inheritance status | N | Prev (95% C.I.) | N | Prev (95% C.I.) | N | Prev (95% C.I.) |
| 1:146578858:147396590 | 1q21.1:Del | 0.817732 | 2 | 1.63 (0.45, 5.95) | Paternal x2 | 3 | 2.45 (0.83, 7.2) | 1 | 0.82 (0.14, 4.62) | 6 | 4.9 (2.24, 10.68) |
| 1:146578858:147396590 | 1q21.1:Dup | 0.817732 | 0 | 0 | 4 | 3.26 (1.27, 8.39) | 0 | 0 | 4 | 3.26 (1.27, 8.39) | |
| 3:195759926:197346552 | 3q29:Del | 1.586626 | 1 | 0.82 (0.14, 4.62) | Paternal | 0 | 0 | 0 | 0 | 1 | 0.82 (0.14, 4.62) |
| 3:195759926:197346552 | 3q29:Dup | 1.586626 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | |
| 7:72745828:74145433 | 7q11.23 (Williams-Beuren):Del | 1.399605 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | |
| 7:72745828:74145433 | 7q11.23:Dup | 1.399605 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | |
| 15:22754735:28570518 | 15q11.2–13.1 (Prader–Willi/Angelman):Del | 5.815783 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | |
| 15:22754735:28570518 | 15q11.2–13.1:Dup* | 5.815783 | 2 | 1.63 (0.45, 5.95) | Maternal x2* | 1 | 0.82 (0.14, 4.62) | 0 | 0 | 3 | 2.45 (0.83, 7.2) |
| 15:31075791:32446853 | 15q13.3:Del | 1.371062 | 1 | 0.82 (0.14, 4.62) | Paternal | 3 | 2.45 (0.83, 7.2) | 1 | 0.82 (0.14, 4.62) | 5 | 4.08 (1.74, 9.55) |
| 15:31075791:32446853 | 15q13.3:Dup | 1.371062 | 1 | 0.82 (0.14, 4.62) | Paternal | 2 | 1.63 (0.45, 5.95) | 3 | 2.45 (0.83, 7.2) | 6 | 4.9 (2.24, 10.68) |
| 16:28823089:29046734 | 16p11.2 distal:Del | 0.223645 | 1 | 0.82 (0.14, 4.62) | Maternal | 1 | 0.82 (0.14, 4.62) | 1 | 0.82 (0.14, 4.62) | 3 | 2.45 (0.83, 7.2) |
| 16:28823089:29046734 | 16p11.2 distal:Dup§ | 0.223645 | 2 | 1.63 (0.45, 5.95) | Maternal unknown§ | 1 | 0.82 (0.14, 4.62) | 5 | 4.08 (1.74, 9.55) | 8 | 6.53 (3.31, 12.88) |
| 16:29650744:30195048 | 16p11.2 proximal:Del | 0.544304 | 4 | 3.26 (1.27, 8.39) | Maternal x3 paternal | 2 | 1.63 (0.45, 5.95) | 0 | 0 | 6 | 4.9 (2.24, 10.68) |
| 16:29650744:30195048 | 16p11.2 proximal:Dup | 0.544304 | 0 | 0 | 4 | 3.26 (1.27, 8.39) | 1 | 0.82 (0.14, 4.62) | 5 | 4.08 (1.74, 9.55) | |
| 17:1247834:2588909 | 17p13.3 (YWHAE, PAFAH1B, Miller-Dieker syndrome):Del | 1.341075 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | |
| 17:1247834:2588909 | 17p13.3 (YWHAE, PAFAH1B1):Dup | 1.341075 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | |
| 17:16811743:20216832 | 17p11.2 (Smith-Magenis):Del | 3.405089 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | |
| 17:16811743:20216832 | 17p11.2 (Potocki-Lupski):Dup | 3.405089 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | |
| 17:34816572:36215672 | 17q12:Del | 1.3991 | 3 | 2.45 (0.83, 7.2) | Maternal paternal x2 | 0 | 0 | 0 | 0 | 3 | 2.45 (0.83, 7.2) |
| 17:34816572:36215672 | 17q12:Dup | 1.3991 | 0 | 0 | 1 | 0.82 (0.14, 4.62) | 1 | 0.82 (0.14, 4.62) | 2 | 1.63 (0.45, 5.95) | |
| 17:43706119:44165156 | 17q21.31 (Koolen-de Vries):Del | 0.459037 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | |
| 17:43706119:44165156 | 17q21.31:Dup | 0.459037 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | |
| 22:19024860:21469135 | 22q11.2 (DiGeorge):Del | 2.444275 | 1 | 0.82 (0.14, 4.62) | Maternal | 0 | 0 | 0 | 0 | 1 | 0.82 (0.14, 4.62) |
| 22:19024860:21469135 | 22q11.2:Dup | 2.444275 | 2 | 1.63 (0.45, 5.95) | Maternal paternal | 2 | 1.63 (0.45, 5.95) | 2 | 1.63 (0.45, 5.95) | 6 | 4.9 (2.24, 10.68) |
| 22:21920486:23652202 | 22q11.2 distal:Del | 1.731716 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | |
| 22:21920486:23652202 | 22q11.2 distal:Dup | 1.731716 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | |
| Total | 20 | 16.32 (10.57, 25.2) | 24 | 19.59 (13.17, 29.13) | 15 | 12.24 (7.42, 20.19) | 59 | 48.16 (37.35, 62.06) | |||
N counts, Prev prevalence in 10,000.
*Indicates that one of the de novo duplications is mosaic and of maternal origin, §indicates that we could not assess the origin of one de novo variant.