Detail Information of AutCNV0000015
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 | |||||
Caucasion | autism | 165 | 118 | 47 | 99 | 195 | 196 | 391 | Sebat, 2007 | ||
Population: | USA | ||||||||||
Platform: | Agilent 244K array, 390K ROMA array | ||||||||||
Method: | aCGH | ||||||||||
Marker: | - | ||||||||||
Band: | 22q13.31-13.33 | ||||||||||
Evidences: | Denovo CNVs; | ||||||||||
Region: | Chr22: 46823508-51175739 (hg17: Chr22: 45144027-49465883) | ||||||||||
Gain/Loss: | loss |
2. Related Syndromic Genes Top
Abbreviations: 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