Detail Information of AutCNV0000160
1. Sample AND Method Top
Users can click the chromosome coordinates of "Region" label to view information in UCSC Genome Browser.
| Ancestry | ADI-R | ADOS | Diagnosis | Family | Individual | Reference | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | |||||
| Mixed |  | | ASD | 427 | 238 | 189 | - | 427 | 500 | 927 | Marshall, 2008 |
| Population: | - | ||||||||||
| Platform: | Affymetrix 500K array | ||||||||||
| Method: | SNP microarray | ||||||||||
| Marker: | - | ||||||||||
| Band: | 22q13.33 | ||||||||||
| Evidences: | Denovo CNVs; | ||||||||||
| Region: | Chr22: 50953103-51229805 (hg17: Chr22: 49243247-49519949) | ||||||||||
| Gain/Loss: | loss | ||||||||||
2. Related Syndromic Genes TopAbbreviations: AD, autosomal dominant; AR, autosomal recessive; ASD, autism spectrum disorder; ID, intellectual disability; XL, X linked.
| Gene ID | Gene Symbol | Inheritance | Evidence Level |
|---|---|---|---|
| AutG85358 | SHANK3 | AD | Level 3: The gene has been reported in many families with ASD/autistic features, but the disorder hasn't been a generally acknowledged ASD related disorder. |
3. Related Non-syndromic Genes Top