nsv4676376
- 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:4,625,423
- Description:GRCh37/hg19 21q22.3(chr21:43472147-48097372)x1 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: 21850 SVs from 121 studies. See in: genome view
Overlapping variant regions from other studies: 21929 SVs from 121 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4676376 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | 42,052,038 | 46,677,460 |
| nsv4676376 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000021.8 | Chr21 | 43,472,147 | 48,097,372 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16208585 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001007138.1, VCV000816172.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16208585 | Remapped | Good | NC_000021.9:g.(?_4 2052038)_(46677460 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 42,052,038 | 46,677,460 |
| nssv16208585 | Submitted genomic | NC_000021.8:g.(?_4 3472147)_(48097372 _?)del | GRCh37 (hg19) | NC_000021.8 | Chr21 | 43,472,147 | 48,097,372 |
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 | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16208585 | GRCh37: NC_000021.8:g.(?_43472147)_(48097372_?)del | copy number loss | germline | not provided | Pathogenic | ClinVar | RCV001007138.1, VCV000816172.1 | 1 |