nsv4676237
- 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:483,613
- Description:GRCh37/hg19 21q21.3-22.11(chr21:31153738-31637350)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: 1331 SVs from 67 studies. See in: genome view
Overlapping variant regions from other studies: 1332 SVs from 67 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4676237 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | 29,781,420 | 30,265,032 |
| nsv4676237 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000021.8 | Chr21 | 31,153,738 | 31,637,350 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16208578 | copy number loss | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001007121.1, VCV000816155.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16208578 | Remapped | Perfect | NC_000021.9:g.(?_2 9781420)_(30265032 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 29,781,420 | 30,265,032 |
| nssv16208578 | Submitted genomic | NC_000021.8:g.(?_3 1153738)_(31637350 _?)del | GRCh37 (hg19) | NC_000021.8 | Chr21 | 31,153,738 | 31,637,350 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16208578 | GRCh37: NC_000021.8:g.(?_31153738)_(31637350_?)del | copy number loss | germline | not provided | Uncertain significance | ClinVar | RCV001007121.1, VCV000816155.1 | 1 |