nsv4436127
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:complex substitution
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:11,055,793
- Description:
Single allele AND Renal transitional cell carcinoma
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 29219 SVs from 124 studies. See in: genome view
Overlapping variant regions from other studies: 29171 SVs from 124 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4436127 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 129,727,365 | 140,783,157 |
| nsv4436127 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 129,367,205 | 140,482,957 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15754781 | complex substitution | Multiple | Multiple | Renal transitional cell carcinoma; Renal transitional cell carcinoma | Likely pathogenic | ClinVar | RCV000754611.1, VCV000617479.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|
| nssv15754781 | Remapped | Good | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 129,727,365 | 140,783,157 |
| nssv15754781 | Submitted genomic | GRCh37 (hg19) | NC_000007.13 | Chr7 | 129,367,205 | 140,482,957 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|
| nssv15754781 | complex substitution | somatic | Renal transitional cell carcinoma; Renal transitional cell carcinoma | Likely pathogenic | ClinVar | RCV000754611.1, VCV000617479.1 |