nsv7095703
- 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:1,896
- Description:NC_000001.10:g.(?_154420581)_(154422476_?)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: 88 SVs from 20 studies. See in: genome view
Overlapping variant regions from other studies: 94 SVs from 21 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv7095703 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 154,448,105 | 154,450,000 |
| nsv7095703 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 154,420,581 | 154,422,476 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18786592 | deletion | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV003105264.2, VCV002423329.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18786592 | Remapped | Perfect | NC_000001.11:g.(?_ 154448105)_(154450 000_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 154,448,105 | 154,450,000 |
| nssv18786592 | Submitted genomic | NC_000001.10:g.(?_ 154420581)_(154422 476_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 154,420,581 | 154,422,476 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18786592 | GRCh37: NC_000001.10:g.(?_154420581)_(154422476_?)del | deletion | germline | not provided | Uncertain significance | ClinVar | RCV003105264.2, VCV002423329.2 |