nsv7093610
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:insertion
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:1
- Description:NM_020778.5(ALPK3):c.572_573insGCCGGGCGCGGTGGC
TCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGN
NNNNNNNNNAAAAAAAAAAAAAAAAAAAACTGCGGC (p.Lys192fs) AND not provided
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 113 SVs from 26 studies. See in: genome view
Overlapping variant regions from other studies: 113 SVs from 26 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv7093610 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000015.10 | Chr15 | 84,839,844 | 84,839,844 |
| nsv7093610 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 85,383,075 | 85,383,075 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18786496 | insertion | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV002917261.1, VCV002042145.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv18786496 | Submitted genomic | NC_000015.10:g.848 39844_84839845ins1 09 | GRCh38 (hg38) | NC_000015.10 | Chr15 | 84,839,844 | 84,839,844 |
| nssv18786496 | Submitted genomic | NC_000015.9:g.8538 3075_85383076ins10 9 | GRCh37 (hg19) | NC_000015.9 | Chr15 | 85,383,075 | 85,383,075 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18786496 | GRCh37: NC_000015.9:g.85383075_85383076ins109, GRCh38: NC_000015.10:g.84839844_84839845ins109 | insertion | germline | not provided | Pathogenic | ClinVar | RCV002917261.1, VCV002042145.1 |