nsv4435814
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:36,638
- Description:
NC_000017.11:g.58705436_58742073del AND Neoplasm of ovary - Publication(s):Berliner et al. 2012, Moyer et al. 2012, Sturgeon et al. 2008
- ClinVar: RCV000785193.2
- ClinVar: VCV000634658.2
- HP: 0100615
- MONDO: 0021068
- MeSH: D010051
- MedGen: C0919267
- OMIM: 116806.0012
- OMIM: 164730.0001
- OMIM: 164870.0008
- OMIM: 167000
- OMIM: 192090.0003
- OMIM: 600098.0001
- OMIM: 600632.0001
- OMIM: 602544.0016
- PubMed: 19042984
- PubMed: 22964825
- PubMed: 23188549
- 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: 266 SVs from 49 studies. See in: genome view
Overlapping variant regions from other studies: 266 SVs from 49 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4435814 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000017.11 | Chr17 | 58,705,436 | 58,742,073 | ||
| nsv4435814 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000017.10 | Chr17 | 56,782,797 | 56,819,434 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15754831 | deletion | Multiple | Multiple | Neoplasm of ovary; OVARIAN CANCER; Ovarian Neoplasms; Ovarian neoplasm; See individual phenotypes in OMIM allelic variants | Pathogenic | ClinVar | RCV000785193.2, VCV000634658.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15754831 | Submitted genomic | NC_000017.11:g.587 05436_58742073del | GRCh38 (hg38) | NC_000017.11 | Chr17 | 58,705,436 | 58,742,073 | ||
| nssv15754831 | Remapped | Perfect | NC_000017.10:g.567 82797_56819434del | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 56,782,797 | 56,819,434 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15754831 | GRCh38: NC_000017.11:g.58705436_58742073del | deletion | germline | Neoplasm of ovary; OVARIAN CANCER; Ovarian Neoplasms; Ovarian neoplasm; See individual phenotypes in OMIM allelic variants | Pathogenic | ClinVar | RCV000785193.2, VCV000634658.2 |