nsv6313745
- 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:7,741,340
- Description:GRCh37/hg19 6q26-27(chr6:163290087-170919482) AND not specified
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 29945 SVs from 132 studies. See in: genome view
Overlapping variant regions from other studies: 29185 SVs from 132 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6313745 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 162,869,055 | 170,610,394 |
| nsv6313745 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 163,290,087 | 170,919,482 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17970183 | copy number loss | Multiple | Multiple | not specified | Pathogenic | ClinVar | RCV002053655.3, VCV001527323.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17970183 | Remapped | Good | NC_000006.12:g.(?_ 162869055)_(170610 394_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 162,869,055 | 170,610,394 |
| nssv17970183 | Submitted genomic | NC_000006.11:g.(?_ 163290087)_(170919 482_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 163,290,087 | 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 |
|---|---|---|---|---|---|---|---|
| nssv17970183 | GRCh37: NC_000006.11:g.(?_163290087)_(170919482_?)del | copy number loss | germline | not specified | Pathogenic | ClinVar | RCV002053655.3, VCV001527323.3 |