nsv6137681
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:66
- Description:NM_001807.6(CEL):c.2127_2192del (p.Thr711_Glu732del) 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: 226 SVs from 55 studies. See in: genome view
Overlapping variant regions from other studies: 226 SVs from 55 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv6137681 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000009.12 | Chr9 | 133,071,613 | 133,071,678 |
| nsv6137681 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 135,947,000 | 135,947,065 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17683470 | deletion | Multiple | Multiple | not provided | Likely benign | ClinVar | RCV001553515.2, VCV001192167.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv17683470 | Submitted genomic | NC_000009.12:g.133 071613_133071678de l | GRCh38 (hg38) | NC_000009.12 | Chr9 | 133,071,613 | 133,071,678 |
| nssv17683470 | Submitted genomic | NC_000009.11:g.135 947000_135947065de l | GRCh37 (hg19) | NC_000009.11 | Chr9 | 135,947,000 | 135,947,065 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17683470 | GRCh37: NC_000009.11:g.135947000_135947065del, GRCh38: NC_000009.12:g.133071613_133071678del | deletion | germline | not provided | Likely benign | ClinVar | RCV001553515.2, VCV001192167.2 |