nsv4676306
- 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:14,319,470
- Description:GRCh37/hg19 21q11.2-21.3(chr21:15006457-29325923)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: 43850 SVs from 134 studies. See in: genome view
Overlapping variant regions from other studies: 43821 SVs from 134 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4676306 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | 13,634,136 | 27,953,605 |
| nsv4676306 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000021.8 | Chr21 | 15,006,457 | 29,325,923 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16208576 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001007109.1, VCV000816143.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16208576 | Remapped | Perfect | NC_000021.9:g.(?_1 3634136)_(27953605 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 13,634,136 | 27,953,605 |
| nssv16208576 | Submitted genomic | NC_000021.8:g.(?_1 5006457)_(29325923 _?)del | GRCh37 (hg19) | NC_000021.8 | Chr21 | 15,006,457 | 29,325,923 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16208576 | GRCh37: NC_000021.8:g.(?_15006457)_(29325923_?)del | copy number loss | germline | not provided | Pathogenic | ClinVar | RCV001007109.1, VCV000816143.1 | 1 |