nsv5673423
- 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:472,857
- Description:NC_000021.8:g.(?_34540717)_(35013574_?)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: 1874 SVs from 82 studies. See in: genome view
Overlapping variant regions from other studies: 1871 SVs from 82 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv5673423 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | 33,168,412 | 33,641,268 |
| nsv5673423 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000021.8 | Chr21 | 34,540,717 | 35,013,574 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17171564 | deletion | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001385476.6, VCV001072704.6 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17171564 | Remapped | Perfect | NC_000021.9:g.(?_3 3168412)_(33641268 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 33,168,412 | 33,641,268 |
| nssv17171564 | Submitted genomic | NC_000021.8:g.(?_3 4540717)_(35013574 _?)del | GRCh37 (hg19) | NC_000021.8 | Chr21 | 34,540,717 | 35,013,574 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17171564 | GRCh37: NC_000021.8:g.(?_34540717)_(35013574_?)del | deletion | germline | not provided | Pathogenic | ClinVar | RCV001385476.6, VCV001072704.6 |