Table 1. CNVs (>500 kb) on 16p11, 15q11–13, and 22q11 are present in a subset of AGRE families.
Region | #SNP | Length (bp) | Type | AGRE ID | Scored status | Inheritance status | Shared by affected sibling? | Previous reports |
15q11–13 | 1246 | 5,902,313 | dup | AU010601 | parent | [22] | ||
15q11–13 | 1246 | 5,902,313 | dup | AU010604 | Autism | Inherited | No | [22] |
15q11–13 | 1246 | 5,902,313 | dup | AU1331202 | parent | |||
15q11–13 | 1246 | 5,902,313 | dup | AU1331302 | Autism | inherited | Yes | |
15q11–13 | 1246 | 5,902,313 | dup | AU1331303 | Autism | inherited | Yes | |
15q11–13 | 1130 | 5,008,629 | dup | AU006501 | parent | |||
15q11–13 | 1130 | 5,008,629 | dup | AU006503 | Spectrum | inherited | Yes | AGRE cytogenetic annotation |
15q11–13 | 1130 | 5,008,629 | dup | AU006504 | Autism | inherited | Yes | AGRE cytogenetic annotation, [21] |
15q11–13 | 1130 | 5,008,629 | dup | AU1135202 | Autism | de novo | NA | |
15q11–13 | 1127 | 4,993,869 | dup | AU023303 | Spectrum | NA | Yes | [22] |
15q11–13 | 1127 | 4,993,869 | dup | AU023304 | Autism | NA | Yes | [21],[22] |
15q11–13 | 1127 | 4,993,869 | dup | AU1607307 | Autism | de novo | No | |
15q11–13 | 569 | 3,540,078 | del | AU1024202 | parent | |||
15q11–13 | 569 | 3,540,078 | del | AU1024301 | Autism | inherited | NA | |
15q11–13 | 437 | 1,347,744 | dup | AU038504 | Autism | de novo | No | [22] |
15q11–13 | 287 | 1,578,642 | dup | AU1208301 | Autism | de novo | No | |
15q11–13 | 273 | 1,517,841 | dup | AU1875202 | parent | |||
15q11–13 | 98 | 572,462 | dup | AU052003 | Autism | NA | Yes | [21] |
15q11–13 | 98 | 572,462 | dup | AU052004 | Autism | NA | Yes | |
16p11.2 | 47 | 530,466 | del | AU0154302 | Autism | de novo | Yes | [10],[11] |
16p11.2 | 47 | 530,466 | del | AU0154303 | Autism | de novo | Yes | [10],[11],[21] |
16p11.2 | 47 | 530,466 | del | AU029803 | Autism | de novo | No | [10],[11],[21] |
16p11.2 | 47 | 530,466 | del | AU041905 | Autism | de novo | No | [10],[11], |
16p11.2 | 47 | 530,466 | del | AU0938301 | Autism | de novo | No | [10],[11],[21] |
16p11.2 | 47 | 530,466 | dup | AU002901 | parent | [11] | ||
16p11.2 | 47 | 530,466 | dup | AU002903 | Autism | inherited | Yes | [11] |
16p11.2 | 47 | 530,466 | dup | AU002904 | None | inherited | [11] | |
16p11.2 | 47 | 530,466 | dup | AU002905 | Autism | inherited | Yes | [10],[11] |
22q11.21 | 512 | 2,534,567 | dup | AU001802 | parent | [22] | ||
22q11.21 | 512 | 2,534,567 | dup | AU001804 | Autism | inherited | No | [21],[22] |
22q11.21 | 512 | 2,534,567 | dup | AU004903 | Autism | de novo | No | [21], |
22q11.21 | 335 | 1,429,207 | dup | AU0991301 | Autism | NA | No | |
22q11.21 | 177 | 728,859 | dup | AU1334201 | parent | |||
22q11.21 | 177 | 728,859 | dup | AU1334302 | Spectrum | inherited | No | |
22q11.21 | 149 | 601,423 | del | AU1555302 | Autism | NA | NA |