Detail Information of AutCNV0001611
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 | |||||
| Caucasion |  | | ASD | - | - | - | - | 996 | 1287 | 2283 | Pinto, 2010 |
| Population: | - | ||||||||||
| Platform: | Illumina Infinium 1M SNP array | ||||||||||
| Method: | SNP microarray, qPCR | ||||||||||
| Marker: | - | ||||||||||
| Band: | 2q13 | ||||||||||
| Evidences: | |||||||||||
| Region: | Chr2: 110817833-111180543 (hg18: Chr2: 110175122-110615080) | ||||||||||
| 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 |
|---|---|---|---|
| AutG4867 | NPHP1 | AR | Level 1: The gene has only been reported in single cases with ASD/autistic features. Additional evidences are needed. |
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! | |||||||||