nsv3914582
- 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:611,858
- Description:GRCh38/hg38 15q13.3(chr15:31772797-32384654)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: 2244 SVs from 118 studies. See in: genome view
Overlapping variant regions from other studies: 2244 SVs from 118 studies. See in: genome view
Overlapping variant regions from other studies: 895 SVs from 33 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3914582 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000015.10 | Chr15 | 31,772,797 | 32,384,654 |
| nsv3914582 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 32,065,000 | 32,676,855 |
| nsv3914582 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000015.8 | Chr15 | 29,852,292 | 30,464,147 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15135698 | copy number loss | Multiple | Multiple | See cases | Pathogenic/Likely pathogenic | ClinVar | RCV000137636.5, VCV000148563.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15135698 | Submitted genomic | NC_000015.10:g.(?_ 31772797)_(3238465 4_?)del | GRCh38 (hg38) | NC_000015.10 | Chr15 | 31,772,797 | 32,384,654 |
| nssv15135698 | Submitted genomic | NC_000015.9:g.(?_3 2065000)_(32676855 _?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 32,065,000 | 32,676,855 |
| nssv15135698 | Submitted genomic | NC_000015.8:g.(?_2 9852292)_(30464147 _?)del | NCBI36 (hg18) | NC_000015.8 | Chr15 | 29,852,292 | 30,464,147 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15135698 | GRCh37: NC_000015.9:g.(?_32065000)_(32676855_?)del, GRCh38: NC_000015.10:g.(?_31772797)_(32384654_?)del, NCBI36: NC_000015.8:g.(?_29852292)_(30464147_?)del | copy number loss | see ClinVar for details | See cases | Pathogenic/Likely pathogenic | ClinVar | RCV000137636.5, VCV000148563.2 | 1 |