nsv3908429
- 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:12,010,833
- Description:GRCh37/hg19 15q26.1-26.3(chr15:90346994-102354798) 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: 37528 SVs from 130 studies. See in: genome view
Overlapping variant regions from other studies: 37533 SVs from 130 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3908429 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 89,803,763 | 101,814,595 |
| nsv3908429 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 90,346,994 | 102,354,798 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15149575 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000447603.3, VCV000395056.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15149575 | Remapped | Good | NC_000015.10:g.(?_ 89803763)_(1018145 95_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 89,803,763 | 101,814,595 |
| nssv15149575 | Submitted genomic | NC_000015.9:g.(?_9 0346994)_(10235479 8_?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 90,346,994 | 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 |
|---|---|---|---|---|---|---|---|
| nssv15149575 | GRCh37: NC_000015.9:g.(?_90346994)_(102354798_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000447603.3, VCV000395056.3 |