Detail Information of AutCNV0004679
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 | |||||
| Asian |  | | - | - | - | - | - | 104 | 2108 | 2212 | Gazzellone MJ, 2014 |
| Population: | China | ||||||||||
| Platform: | Affymetrix CytoScan HD | ||||||||||
| Method: | - | ||||||||||
| Marker: | - | ||||||||||
| Band: | 16p13.3 | ||||||||||
| Evidences: | CNVs Only Present In Patients; Denovo CNVs; | ||||||||||
| Region: | Chr16: 2088391-2415016 | ||||||||||
| 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 |
|---|---|---|---|
| AutG7249 | TSC2 | AD | Level 4: The disorder is a generally acknowledged ASD related disorder. |
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 | |||
| AutG7249 | TSC2 | 1 | 0 | 1 | 0 | 2 | 1 | 46 |
| AutG5310 | PKD1 | 0 | 0 | 0 | 2 | 1 | 1 | 6 |
| AutG283871 | PGP | 0 | 0 | 0 | 1 | 1 | 1 | 5 |