Variant Details for CNTN5
Basic Information Top
| Gene Symbol: | CNTN5 ( HNB-2s,MGC163491,NB-2 ) |
|---|---|
| Gene Full Name: | contactin 5 |
| Band: | 11q22.1 |
| Quick Links | Entrez ID:53942; OMIM: 607219; Uniprot ID:CNTN5_HUMAN; ENSEMBL ID: ENSG00000149972; HGNC ID: 2175 |
| 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 | 8 | 1 | 0 | 2 | 0 | 1 | 12 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0002782 | 11 | 11q22.1 | 99524334 | 99566782 | 42448 | loss | external link | Pinto, 2010 |
| AutCNV0002781 | 11 | 11q22.1 | 99524334 | 99566782 | 42448 | loss | external link | Pinto, 2010 |
| AutCNV0002012 | 11 | 11q22.1 | 99516815 | 99566782 | 49967 | loss | external link | Pinto, 2010 |
| AutCNV0000792 | 11 | 11q22.1 | 98907603 | 98971472 | 63869 | gain | external link | Pinto, 2010 |