nsv3924499
- 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:2
- Description:NM_000421.3(KRT10):c.1458_1459delCCins17 (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: 117 SVs from 17 studies. See in: genome view
Overlapping variant regions from other studies: 117 SVs from 17 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv3924499 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000017.11 | Chr17 | 40,819,076 | 40,819,077 |
| nsv3924499 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 38,975,328 | 38,975,329 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15130122 | delins | Multiple | Multiple | not specified | Likely benign | ClinVar | RCV000615808.1, VCV000508024.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv15130122 | Submitted genomic | NC_000017.11:g.408 19076_40819077deli ns? | GRCh38 (hg38) | NC_000017.11 | Chr17 | 40,819,076 | 40,819,077 |
| nssv15130122 | Submitted genomic | NC_000017.10:g.389 75328_38975329deli ns? | GRCh37 (hg19) | NC_000017.10 | Chr17 | 38,975,328 | 38,975,329 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15130122 | GRCh37: NC_000017.10:g.38975328_38975329delins?, GRCh38: NC_000017.11:g.40819076_40819077delins? | delins | germline | not specified | Likely benign | ClinVar | RCV000615808.1, VCV000508024.1 |