nsv5673315
- 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:13,021
- Description:NC_000001.10:g.(?_209798983)_(209812003_?)del 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: 129 SVs from 26 studies. See in: genome view
Overlapping variant regions from other studies: 131 SVs from 26 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5673315 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 209,625,638 | 209,638,658 |
| nsv5673315 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 209,798,983 | 209,812,003 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17171420 | deletion | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001383146.3, VCV001070854.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17171420 | Remapped | Perfect | NC_000001.11:g.(?_ 209625638)_(209638 658_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 209,625,638 | 209,638,658 |
| nssv17171420 | Submitted genomic | NC_000001.10:g.(?_ 209798983)_(209812 003_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 209,798,983 | 209,812,003 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17171420 | GRCh37: NC_000001.10:g.(?_209798983)_(209812003_?)del | deletion | germline | not provided | Pathogenic | ClinVar | RCV001383146.3, VCV001070854.3 |