Detail Information of AutCNV0004437
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 | - | - | - | - | 41 | 367 | 408 | Nord, 2011 |
| Population: | US | ||||||||||
| Platform: | Nimblegen HD2 array | ||||||||||
| Method: | aCGH | ||||||||||
| Marker: | - | ||||||||||
| Band: | 7q35 | ||||||||||
| Evidences: | CNVs Only Present In Patients; | ||||||||||
| Region: | Chr7: 146575921-146662551 | ||||||||||
| 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 |
|---|---|---|---|
| AutG26047 | CNTNAP2 | AR (AD too?) | 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 | |||
| AutG26047 | CNTNAP2 | 3 | 1 | 3 | 0 | 1 | 1 | 44 |