nsv3914976
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:delins
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:17
- Description:NM_000421.3(KRT10):c.1624_1640del17ins20 (p.?) AND not specified
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 118 SVs from 18 studies. See in: genome view
Overlapping variant regions from other studies: 118 SVs from 18 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv3914976 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000017.11 | Chr17 | 40,818,895 | 40,818,911 |
| nsv3914976 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 38,975,147 | 38,975,163 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15130111 | delins | Multiple | Multiple | not specified | Likely benign | ClinVar | RCV000605981.1, VCV000512647.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv15130111 | Submitted genomic | NC_000017.11:g.408 18895_40818911deli ns? | GRCh38 (hg38) | NC_000017.11 | Chr17 | 40,818,895 | 40,818,911 |
| nssv15130111 | Submitted genomic | NC_000017.10:g.389 75147_38975163deli ns? | GRCh37 (hg19) | NC_000017.10 | Chr17 | 38,975,147 | 38,975,163 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15130111 | GRCh37: NC_000017.10:g.38975147_38975163delins?, GRCh38: NC_000017.11:g.40818895_40818911delins? | delins | germline | not specified | Likely benign | ClinVar | RCV000605981.1, VCV000512647.1 |