Detail Information of AutCNV0000663
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 | 1 | - | 1 | - | - | - | - | Pagnamenta, 2010 |
Population: | IMGSAC | ||||||||||
Platform: | Infinium 1M SNP BeadArray | ||||||||||
Method: | SNP microarray | ||||||||||
Marker: | - | ||||||||||
Band: | 2q14.3 | ||||||||||
Evidences: | Overlapping/Recurrent CNVs; | ||||||||||
Region: | Chr2: 125120193-125347357 (hg18: Chr2: 124836663-125063827) | ||||||||||
Gain/Loss: | loss |
2. Related Syndromic Genes Top
Abbreviations: 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 | |||
AutG129684 | CNTNAP5 | 1 | 0 | 0 | 0 | 0 | 0 | 2 |