Table 2.
Copy number variations (CNVs) associated with autism spectrum disorders (ASD), epilepsy, intellectual disability and schizophrenia
| Cytoband | Maximum coordinates | Phenotype | Deletion/duplication | References |
|---|---|---|---|---|
| 1q21.1 |
144.9–146.2 |
ASD, E, ID, SCZ |
Deletion/duplication |
[16,66-75] |
| 3q29 |
197.1–198.9 |
ASD, E, ID, SCZ |
Deletion/duplication |
[16,74-81] |
| 7q11.23 |
71.9–74.2 |
ASD, E, ID, SCZ |
Deletion/duplication |
[69,75,82-89] |
| 15q11.2–13.1 |
21.1–26.2 |
ASD, E, ID, SCZ |
Duplication |
[68,69,72,83,90,91] |
| 15q13.3 |
28.2–30.7 |
ASD, E, ID, SCZ |
Deletion/duplication |
[16,68-72,75,83,92-100] |
| 16p11.2 |
29.4–30.1 |
ASD, E, ID, SCZ |
Duplication |
[16,68,74,75,83,101-107] |
| 16p11.2 |
29.4–30.1 |
ASD, E, ID |
Deletion |
[68,83,92,101,102,104-110] |
| 16p13.11 |
14.6–18.7 |
ASD, E, ID, SCZ |
Deletion/duplication |
[68,69,72,73,81,90,92,111-114] |
| 17q12 |
31.5–33.1 |
ASD, E, ID, SCZ |
Deletion/duplication |
[73,81,115-117] |
| 22q11.2 | 16.9–20.6 | ASD, E, ID, SCZ | Deletion | [16,68,69,71,72,80,92,101],[118,119] |