nsv4728945
- 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:147,427
- Description:GRCh37/hg19 15q26.1(chr15:93392804-93540230)x3 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: 552 SVs from 67 studies. See in: genome view
Overlapping variant regions from other studies: 552 SVs from 67 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4728945 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 92,849,574 | 92,997,000 |
| nsv4728945 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 93,392,804 | 93,540,230 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16254500 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001259817.1, VCV000980641.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16254500 | Remapped | Perfect | NC_000015.10:g.(?_ 92849574)_(9299700 0_?)dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 92,849,574 | 92,997,000 |
| nssv16254500 | Submitted genomic | NC_000015.9:g.(?_9 3392804)_(93540230 _?)dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 93,392,804 | 93,540,230 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16254500 | GRCh37: NC_000015.9:g.(?_93392804)_(93540230_?)dup | copy number gain | germline | not provided | Uncertain significance | ClinVar | RCV001259817.1, VCV000980641.1 | 3 |