nsv3920020
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38, NCBI36
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:3,042,395
- Description:GRCh38/hg38 15q24.1-24.2(chr15:72685231-75727625)x1 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: 7063 SVs from 112 studies. See in: genome view
Overlapping variant regions from other studies: 7064 SVs from 112 studies. See in: genome view
Overlapping variant regions from other studies: 1627 SVs from 30 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3920020 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000015.10 | Chr15 | 72,685,231 | 75,727,625 |
| nsv3920020 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 72,977,572 | 76,019,966 |
| nsv3920020 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000015.8 | Chr15 | 70,764,625 | 73,807,021 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15148167 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000141573.4, VCV000153074.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15148167 | Submitted genomic | NC_000015.10:g.(?_ 72685231)_(7572762 5_?)del | GRCh38 (hg38) | NC_000015.10 | Chr15 | 72,685,231 | 75,727,625 |
| nssv15148167 | Submitted genomic | NC_000015.9:g.(?_7 2977572)_(76019966 _?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 72,977,572 | 76,019,966 |
| nssv15148167 | Submitted genomic | NC_000015.8:g.(?_7 0764625)_(73807021 _?)del | NCBI36 (hg18) | NC_000015.8 | Chr15 | 70,764,625 | 73,807,021 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15148167 | GRCh37: NC_000015.9:g.(?_72977572)_(76019966_?)del, GRCh38: NC_000015.10:g.(?_72685231)_(75727625_?)del, NCBI36: NC_000015.8:g.(?_70764625)_(73807021_?)del | copy number loss | de novo | See cases | Pathogenic | ClinVar | RCV000141573.4, VCV000153074.1 | 1 |