nsv6313298
- 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:370,605
- Description:NC_000009.11:g.(?_98638288)_(99008892_?)dup 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: 760 SVs from 62 studies. See in: genome view
Overlapping variant regions from other studies: 760 SVs from 62 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6313298 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 95,876,006 | 96,246,610 |
| nsv6313298 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 98,638,288 | 99,008,892 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17973278 | duplication | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV002011570.3, VCV001510172.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17973278 | Remapped | Perfect | NC_000009.12:g.(?_ 95876006)_(9624661 0_?)dup | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 95,876,006 | 96,246,610 |
| nssv17973278 | Submitted genomic | NC_000009.11:g.(?_ 98638288)_(9900889 2_?)dup | GRCh37 (hg19) | NC_000009.11 | Chr9 | 98,638,288 | 99,008,892 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17973278 | GRCh37: NC_000009.11:g.(?_98638288)_(99008892_?)dup | duplication | germline | not provided | Uncertain significance | ClinVar | RCV002011570.3, VCV001510172.3 |