nsv4457830
- 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:2,483,715
- Description:GRCh37/hg19 21q22.3(chr21:43756585-46240105)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: 9886 SVs from 114 studies. See in: genome view
Overlapping variant regions from other studies: 9963 SVs from 114 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4457830 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | 42,336,476 | 44,820,190 |
| nsv4457830 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000021.8 | Chr21 | 43,756,585 | 46,240,105 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15777233 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000849014.2, VCV000688323.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15777233 | Remapped | Good | NC_000021.9:g.(?_4 2336476)_(44820190 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 42,336,476 | 44,820,190 |
| nssv15777233 | Submitted genomic | NC_000021.8:g.(?_4 3756585)_(46240105 _?)del | GRCh37 (hg19) | NC_000021.8 | Chr21 | 43,756,585 | 46,240,105 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15777233 | GRCh37: NC_000021.8:g.(?_43756585)_(46240105_?)del | copy number loss | unknown | not provided | Pathogenic | ClinVar | RCV000849014.2, VCV000688323.2 | 1 |