nsv4675660
- 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:224,716
- Description:GRCh37/hg19 15q23(chr15:69681832-69906547)x1 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: 492 SVs from 50 studies. See in: genome view
Overlapping variant regions from other studies: 492 SVs from 50 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4675660 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 69,389,493 | 69,614,208 |
| nsv4675660 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 69,681,832 | 69,906,547 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16208952 | copy number loss | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001006708.1, VCV000815733.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16208952 | Remapped | Perfect | NC_000015.10:g.(?_ 69389493)_(6961420 8_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 69,389,493 | 69,614,208 |
| nssv16208952 | Submitted genomic | NC_000015.9:g.(?_6 9681832)_(69906547 _?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 69,681,832 | 69,906,547 |
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 | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16208952 | GRCh37: NC_000015.9:g.(?_69681832)_(69906547_?)del | copy number loss | germline | not provided | Uncertain significance | ClinVar | RCV001006708.1, VCV000815733.1 | 1 |