nsv5381457
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:1
- Description:NC_000007.13:g.116166573-?_116436183+?dup AND Renal 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: 81 SVs from 21 studies. See in: genome view
Overlapping variant regions from other studies: 81 SVs from 21 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5381457 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 116,526,519 | 116,526,519 |
| nsv5381457 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 116,166,573 | 116,166,573 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16866059 | duplication | Multiple | Multiple | Carcinoma, Renal Cell; Renal cell carcinoma; Renal cell carcinoma, papillary, 1 | Uncertain significance | ClinVar | RCV001298708.1, VCV001002302.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16866059 | Remapped | Perfect | NC_000007.14:g.116 526519dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 116,526,519 | 116,526,519 |
| nssv16866059 | Submitted genomic | NC_000007.13:g.116 166573dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 116,166,573 | 116,166,573 |
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 |
|---|---|---|---|---|---|---|---|
| nssv16866059 | GRCh37: NC_000007.13:g.116166573dup | duplication | germline | Carcinoma, Renal Cell; Renal cell carcinoma; Renal cell carcinoma, papillary, 1 | Uncertain significance | ClinVar | RCV001298708.1, VCV001002302.1 |