Assay Details
Target Gene Details
Entrez Gene ID: | 5265 |
Gene Name: | serpin family A member 1 |
Gene Aliases: |
A1A, A1AT, AAT, PI, PI1, PRO2275, alpha1AT |
Location: |
Chr.14:94376747-94390692 on Build GRCh38 |
Assay Gene Location: | Overlaps Intron 3 - Exon 3 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv509545 | Chr.14:94360156 - 94400412 on Build GRCh38 | Insertion | SERPINA2 SERPINA1 |
nsv832863 | Chr.14:94348482 - 94501487 on Build GRCh38 | Gain | SERPINA12 SERPINA2 SERPINA1 SERPINA9 SERPINA11 |
nsv470662 | Chr.14:94296542 - 94798793 on Build GRCh38 | Gain | SERPINA12 SERPINA6 SERPINA2 SERPINA1 SERPINA4 SERPINA5 SERPINA3 GSC SERPINA9 SERPINA11 SERPINA13P |
nsv1406 | Chr.14:94361166 - 94394512 on Build GRCh38 | Insertion | SERPINA2 SERPINA1 |
nsv832864 | Chr.14:94362101 - 94538150 on Build GRCh38 | Loss | SERPINA12 SERPINA2 SERPINA1 SERPINA9 SERPINA11 |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |