Detail Information of AutCNV0004955
1. Sample AND Method Top
| Ancestry | ADI-R | ADOS | Diagnosis | Family | Individual | Reference | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | |||||
| Caucasion |  |  | autism, ASD | 912 | - | 912 | - | - | 1488 | - | Bucan, 2009 |
| Population: | USA | ||||||||||
| Platform: | Illumina HumanHap550 version 3 array | ||||||||||
| Method: | SNP microarray | ||||||||||
| Marker: | gdups | ||||||||||
| Band: | 22q11.21 | ||||||||||
| Evidences: | Overlapping/Recurrent CNVs; CNVs Not Present In Control; | ||||||||||
| Region: | Chr22: 18243040 - 18309359 | ||||||||||
| Gain/Loss: | Gain | ||||||||||
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 |
|---|---|---|---|
| No data! | |||
3. Related Non-syndromic Genes Top| Gene ID | Gene Symbol | Evidence Score | Total Score | |||||
|---|---|---|---|---|---|---|---|---|
| Low-Scale Association | GWAS | Low-Scale Single Gene | Expression | CNV | Linkage | |||
| AutG1312 | COMT | 2 | 0 | 1 | 0 | 2 | 1 | 18 |
