nsv6313857
- 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:24,441,133
- Description:GRCh37/hg19 6q12-16.1(chr6:69938252-94379210) 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: 61275 SVs from 135 studies. See in: genome view
Overlapping variant regions from other studies: 61278 SVs from 135 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6313857 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 69,228,360 | 93,669,492 |
| nsv6313857 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 69,938,252 | 94,379,210 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17970109 | copy number gain | Multiple | Multiple | not specified | Pathogenic | ClinVar | RCV002053581.3, VCV001527249.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17970109 | Remapped | Good | NC_000006.12:g.(?_ 69228360)_(9366949 2_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 69,228,360 | 93,669,492 |
| nssv17970109 | Submitted genomic | NC_000006.11:g.(?_ 69938252)_(9437921 0_?)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 69,938,252 | 94,379,210 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17970109 | GRCh37: NC_000006.11:g.(?_69938252)_(94379210_?)dup | copy number gain | germline | not specified | Pathogenic | ClinVar | RCV002053581.3, VCV001527249.3 |