nsv6634386
- 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:2,694,022
- Description:GRCh37/hg19 1q21.1-21.2(chr1:146626685-147597284)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: 5703 SVs from 119 studies. See in: genome view
Overlapping variant regions from other studies: 2283 SVs from 96 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6634386 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 145,430,980 | 148,125,001 |
| nsv6634386 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 146,626,685 | 147,597,284 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18326343 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV002292765.4, VCV001711249.5 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18326343 | Remapped | Pass | NC_000001.11:g.(?_ 145430980)_(148125 001_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 145,430,980 | 148,125,001 |
| nssv18326343 | Submitted genomic | NC_000001.10:g.(?_ 146626685)_(147597 284_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 146,626,685 | 147,597,284 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18326343 | GRCh37: NC_000001.10:g.(?_146626685)_(147597284_?)del | copy number loss | germline | not provided | Pathogenic | ClinVar | RCV002292765.4, VCV001711249.5 | 1 |