nsv4729261
- 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:3,443,871
- Description:GRCh37/hg19 6q27(chr6:167580012-170919482)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: 18295 SVs from 125 studies. See in: genome view
Overlapping variant regions from other studies: 17549 SVs from 125 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4729261 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 167,166,524 | 170,610,394 |
| nsv4729261 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 167,580,012 | 170,919,482 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16254085 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001258925.1, VCV000979749.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16254085 | Remapped | Good | NC_000006.12:g.(?_ 167166524)_(170610 394_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 167,166,524 | 170,610,394 |
| nssv16254085 | Submitted genomic | NC_000006.11:g.(?_ 167580012)_(170919 482_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 167,580,012 | 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 |
|---|---|---|---|---|---|---|---|---|
| nssv16254085 | GRCh37: NC_000006.11:g.(?_167580012)_(170919482_?)del | copy number loss | germline | not provided | Pathogenic | ClinVar | RCV001258925.1, VCV000979749.1 | 1 |