nsv4456196
- 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:12,747,117
- Description:GRCh37/hg19 15q21.1-22.2(chr15:48000433-60747551)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: 32346 SVs from 124 studies. See in: genome view
Overlapping variant regions from other studies: 32348 SVs from 124 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4456196 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 47,708,236 | 60,455,352 |
| nsv4456196 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 48,000,433 | 60,747,551 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15774424 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000845891.2, VCV000685183.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15774424 | Remapped | Perfect | NC_000015.10:g.(?_ 47708236)_(6045535 2_?)dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 47,708,236 | 60,455,352 |
| nssv15774424 | Submitted genomic | NC_000015.9:g.(?_4 8000433)_(60747551 _?)dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 48,000,433 | 60,747,551 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15774424 | GRCh37: NC_000015.9:g.(?_48000433)_(60747551_?)dup | copy number gain | unknown | not provided | Pathogenic | ClinVar | RCV000845891.2, VCV000685183.2 | 3 |