nsv6313793
- 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:8,818,563
- Description:GRCh37/hg19 6q26-27(chr6:162212864-170919482) 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: 35812 SVs from 134 studies. See in: genome view
Overlapping variant regions from other studies: 35052 SVs from 134 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6313793 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 161,791,832 | 170,610,394 |
| nsv6313793 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 162,212,864 | 170,919,482 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17970180 | copy number gain | Multiple | Multiple | not specified | Pathogenic | ClinVar | RCV002053652.3, VCV001527320.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17970180 | Remapped | Good | NC_000006.12:g.(?_ 161791832)_(170610 394_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 161,791,832 | 170,610,394 |
| nssv17970180 | Submitted genomic | NC_000006.11:g.(?_ 162212864)_(170919 482_?)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 162,212,864 | 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 |
|---|---|---|---|---|---|---|---|
| nssv17970180 | GRCh37: NC_000006.11:g.(?_162212864)_(170919482_?)dup | copy number gain | germline | not specified | Pathogenic | ClinVar | RCV002053652.3, VCV001527320.3 |