Detail Information of AutCNV0000443
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 | - | - | - | - | 119 | 54 | 173 | Gregory, 2009 | ||
Population: | USA | ||||||||||
Platform: | Genetix Qarray2 | ||||||||||
Method: | aCGH | ||||||||||
Marker: | - | ||||||||||
Band: | 1p36.32-36.33 | ||||||||||
Evidences: | Overlapping/Recurrent CNVs; | ||||||||||
Region: | Chr1: 1026808-3706053 | ||||||||||
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 | |||
AutG79258 | MMEL1 | 0 | 0 | 1 | 0 | 1 | 0 | 12 |
AutG6339 | SCNN1D | 0 | 0 | 0 | 1 | 1 | 0 | 3 |
AutG2563 | GABRD | 0 | 0 | 0 | 1 | 1 | 0 | 3 |
AutG142678 | MIB2 | 0 | 0 | 0 | 1 | 1 | 0 | 3 |
AutG199990 | C1orf86 | 0 | 0 | 0 | 1 | 1 | 0 | 3 |