nsv6634382
- 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:2,458,181
- Description:GRCh37/hg19 6q27(chr6:168552894-170919482)x1 AND See cases
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 14280 SVs from 115 studies. See in: genome view
Overlapping variant regions from other studies: 13717 SVs from 115 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6634382 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 168,152,214 | 170,610,394 |
| nsv6634382 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 168,552,894 | 170,919,482 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18326369 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV002292396.1, VCV001711095.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18326369 | Remapped | Good | NC_000006.12:g.(16 8152214_?)_(?_1706 10394)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 168,152,214 | 170,610,394 |
| nssv18326369 | Submitted genomic | NC_000006.11:g.(16 8552894_?)_(?_1709 19482)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 168,552,894 | 170,919,482 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18326369 | GRCh37: NC_000006.11:g.(168552894_?)_(?_170919482)del | copy number loss | unknown | See cases | Pathogenic | ClinVar | RCV002292396.1, VCV001711095.1 | 1 |