Detail Information of AutCNV0002035
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: | 12q24.31-24.32 | ||||||||||
Evidences: | |||||||||||
Region: | Chr12: 124064918-127061178 (hg18: Chr12: 122630871-125627131) | ||||||||||
Gain/Loss: | gain |
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 | |||
AutG114795 | TMEM132B | 0 | 1 | 0 | 0 | 0 | 1 | 6 |
AutG10959 | TMED2 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
AutG949 | SCARB1 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
AutG80212 | CCDC92 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |