Variant Details for ARID1B
Basic Information Top
| Gene Symbol: | ARID1B ( 6A3-5,BAF250B,BRIGHT,DAN15,ELD/OSA1,KIAA1235,OSA2,P250R ) |
|---|---|
| Gene Full Name: | AT rich interactive domain 1B (SWI1-like) |
| Band: | 6q25.3 |
| Quick Links | Entrez ID:57492; OMIM: NA; Uniprot ID:ARI1B_HUMAN; ENSEMBL ID: ENSG00000049618; HGNC ID: 18040 |
| Relate to Another Database: | SFARIGene; denovo-db |
Variant Statistic TopClick the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default. Chromosome coordinates: hg19
| Genetic Category | CNVs/SVs | de novo Mutations | Mosaics SNVs | NGS Other Mutations | Low-Scale Gene Mutations | Linkage Regions | Total |
|---|---|---|---|---|---|---|---|
| Number | 3 | 22 | 0 | 5 | 1 | 0 | 31 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0004525 | 6 | 6q25.3 | 157209179 | 157420734 | 211555 | loss | external link | Nord, 2011 |
| AutCNV0004258 | 6 | 6q25.3 | 156743463 | 158569886 | 1826423 | loss | external link | Sanders, 2011 |