Detail Information of AutCNV0000031
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 | ASD | 1491 | - | - | - | - | - | 0 | Szatmari, 2007 | ||
Population: | Europe, North America | ||||||||||
Platform: | Affymetrix 10K v2 SNP array | ||||||||||
Method: | SNP microarray | ||||||||||
Marker: | - | ||||||||||
Band: | 22q11.21 | ||||||||||
Evidences: | CNVs Overlapping With ACRD; | ||||||||||
Region: | Chr22: 19132346-21982246 (hg17: Chr22: 17506900-20306800) | ||||||||||
Gain/Loss: | gain |
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 |
---|---|---|---|
AutG6899 | TBX1 | 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