nsv7097006
- 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:1,248,974
- Description:NC_000004.11:g.(?_8869419)_(10118290_?)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: 4574 SVs from 111 studies. See in: genome view
Overlapping variant regions from other studies: 4578 SVs from 111 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv7097006 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 8,867,693 | 10,116,666 |
| nsv7097006 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 8,869,419 | 10,118,290 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18786846 | deletion | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV003119759.2, VCV002426319.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18786846 | Remapped | Good | NC_000004.12:g.(?_ 8867693)_(10116666 _?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 8,867,693 | 10,116,666 |
| nssv18786846 | Submitted genomic | NC_000004.11:g.(?_ 8869419)_(10118290 _?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 8,869,419 | 10,118,290 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18786846 | GRCh37: NC_000004.11:g.(?_8869419)_(10118290_?)del | deletion | germline | not provided | Uncertain significance | ClinVar | RCV003119759.2, VCV002426319.2 |