nsv5980373
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:137,924
- Description:
See descriptions for individual calls in download files - Publication(s):Berliner et al. 2012, Berliner et al. 2021, Moyer et al. 2012, Sturgeon et al. 2008, US Preventive Services Task Force et al. 2018
- ClinVar: RCV001527475.1
- ClinVar: RCV001527477.1
- ClinVar: VCV001174013.1
- HP: 0100615
- MONDO: 0006196
- MONDO: 0009891
- MONDO: 0021068
- MeSH: D010051
- MeSH: D011087
- MedGen: C0032463
- MedGen: C0854924
- MedGen: C0919267
- OMIM: 116806.0012
- OMIM: 164730.0001
- OMIM: 164870.0008
- OMIM: 167000
- OMIM: 192090.0003
- OMIM: 263300
- OMIM: 600098.0001
- OMIM: 600632.0001
- OMIM: 602544.0016
- Orphanet: 729
- PubMed: 19042984
- PubMed: 22964825
- PubMed: 23188549
- PubMed: 29450531
- PubMed: 33410258
- Overlapping Genes
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 328 SVs from 45 studies. See in: genome view
Overlapping variant regions from other studies: 328 SVs from 45 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5980373 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 108,227,605 | 108,365,528 |
| nsv5980373 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 108,098,332 | 108,236,255 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17517441 | deletion | Multiple | Multiple | POLYCYTHEMIA VERA; PV; Polycythemia Vera; Polycythemia vera; endometrial serous adenocarcinoma; polycythemia vera | Pathogenic | ClinVar | RCV001527477.1, VCV001174013.1 |
| nssv17517448 | deletion | Multiple | Multiple | Neoplasm of ovary; OVARIAN CANCER; Ovarian Neoplasms; Ovarian neoplasm; See individual phenotypes in OMIM allelic variants | Pathogenic | ClinVar | RCV001527475.1, VCV001174013.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17517441 | Remapped | Perfect | NC_000011.10:g.108 227605_108365528de l | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 108,227,605 | 108,365,528 |
| nssv17517448 | Remapped | Perfect | NC_000011.10:g.108 227605_108365528de l | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 108,227,605 | 108,365,528 |
| nssv17517441 | Submitted genomic | NC_000011.9:g.1080 98332_108236255del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 108,098,332 | 108,236,255 | ||
| nssv17517448 | Submitted genomic | NC_000011.9:g.1080 98332_108236255del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 108,098,332 | 108,236,255 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17517441 | GRCh37: NC_000011.9:g.108098332_108236255del | deletion | somatic | POLYCYTHEMIA VERA; PV; Polycythemia Vera; Polycythemia vera; endometrial serous adenocarcinoma; polycythemia vera | Pathogenic | ClinVar | RCV001527477.1, VCV001174013.1 |
| nssv17517448 | GRCh37: NC_000011.9:g.108098332_108236255del | deletion | somatic | Neoplasm of ovary; OVARIAN CANCER; Ovarian Neoplasms; Ovarian neoplasm; See individual phenotypes in OMIM allelic variants | Pathogenic | ClinVar | RCV001527475.1, VCV001174013.1 |