nsv3899559
- 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:60,361,710
- Description:GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4 AND See cases
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 159185 SVs from 145 studies. See in: genome view
Overlapping variant regions from other studies: 159363 SVs from 145 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3899559 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 41,452,886 | 101,814,595 |
| nsv3899559 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 41,745,084 | 102,354,798 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15148445 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000447123.3, VCV000394887.3 | 4 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15148445 | Remapped | Good | NC_000015.10:g.(?_ 41452886)_(1018145 95_?)dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 41,452,886 | 101,814,595 |
| nssv15148445 | Submitted genomic | NC_000015.9:g.(?_4 1745084)_(10235479 8_?)dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 41,745,084 | 102,354,798 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15148445 | GRCh37: NC_000015.9:g.(?_41745084)_(102354798_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000447123.3, VCV000394887.3 | 4 |