Detail Information of AutCNV0005508
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 | |||||
| - | - | - | - | - | - | - | - | 10 | - | 10 | Cabras V, 2012 |
| Endophenotype: | class="left">Servere MR associated with autism and eplieptic encephalopathy | ||||||||||
| Population: | Italy | ||||||||||
| Platform: | fast BAC genome array-CGH platform | ||||||||||
| Method: | aCGH; FISH | ||||||||||
| Marker: | - | ||||||||||
| Band: | 8p23.2 | ||||||||||
| Evidences: | |||||||||||
| Region: | Chr8: - | ||||||||||
| 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 | ||||
| No data! | |||||||||