Detail Information of AutCNV0005125
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 | |||||
- | autism | - | - | - | - | 1 | - | 1 | Stolerman ES, 2016 | ||
Population: | - | ||||||||||
Platform: | Agilent custom microarray | ||||||||||
Method: | - | ||||||||||
Marker: | - | ||||||||||
Band: | 14q11.2 | ||||||||||
Evidences: | CNVs Only Present In Patients; Denovo CNVs; | ||||||||||
Region: | Chr14: 21863796-21868103 | ||||||||||
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 | |||
AutG5071 | PARK2 | 0 | 0 | 1 | 0 | 1 | 0 | 12 |