Detail Information of AutCNV0004849
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 | |||||
| - | - | - | ASD | - | - | - | - | 512 | - | 766 | Ceroni F, 2014 |
| Population: | - | ||||||||||
| Platform: | Illumina Human OmniExpress | ||||||||||
| Method: | - | ||||||||||
| Marker: | - | ||||||||||
| Band: | |||||||||||
| Evidences: | CNVs Only Present In Patients; | ||||||||||
| Region: | Chr7: 111955948-111960100 | ||||||||||
| Gain/Loss: | loss | ||||||||||
| Ancestry | ADI-R | ADOS | Diagnosis | Family | Individual | Reference | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | |||||
| - | - | - | ASD | 322 | - | - | - | 318 | - | 766 | Ceroni F, 2014 |
| Population: | - | ||||||||||
| Platform: | - | ||||||||||
| Method: | PCR | ||||||||||
| Marker: | - | ||||||||||
| Band: | |||||||||||
| Evidences: | CNVs Only Present In Patients; | ||||||||||
| Region: | Chr7: 111955948-111960100 | ||||||||||
| Gain/Loss: | loss | ||||||||||
| Ancestry | ADI-R | ADOS | Diagnosis | Family | Individual | Reference | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | |||||
| - |  |  | ASD | 252 | - | - | - | 412 | 354 | 766 | Ceroni F, 2014 |
| Population: | - | ||||||||||
| Platform: | - | ||||||||||
| Method: | PCR | ||||||||||
| Marker: | - | ||||||||||
| Band: | |||||||||||
| Evidences: | CNVs Only Present In Patients; | ||||||||||
| Region: | Chr7: 111955948-111960100 | ||||||||||
| Gain/Loss: | loss | ||||||||||
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! | |||||||||
Simple Query:
Syndromic Genes
Non-syndromic Genes
AutismKB Statistics
- Studies: 1,036
- Genes: 1,379
- CNVs/SVs: 5,420
- SNVs/Indels: 11,669
- de novo Mutations: 5,669
- Mosaics: 789
- Linkage Regions: 172
- Paper Collected: 6/30/2018
- Last Update: 8/26/2018