nsv7097968
- 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:2,052,755
- Description:
NC_000009.11:g.(?_676973)_(2729727_?)del 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: 6776 SVs from 116 studies. See in: genome view
Overlapping variant regions from other studies: 6778 SVs from 116 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv7097968 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 676,973 | 2,729,727 |
| nsv7097968 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 676,973 | 2,729,727 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18786675 | deletion | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV003119520.1, VCV002426082.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18786675 | Remapped | Perfect | NC_000009.12:g.(?_ 676973)_(2729727_? )del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 676,973 | 2,729,727 |
| nssv18786675 | Submitted genomic | NC_000009.11:g.(?_ 676973)_(2729727_? )del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 676,973 | 2,729,727 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18786675 | GRCh37: NC_000009.11:g.(?_676973)_(2729727_?)del | deletion | germline | not provided | Uncertain significance | ClinVar | RCV003119520.1, VCV002426082.2 |