nsv3920352
- 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:18,131,894
- Description:GRCh38/hg38 15q25.2-26.3(chr15:83711377-101843270)x3 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: 52733 SVs from 135 studies. See in: genome view
Overlapping variant regions from other studies: 52725 SVs from 135 studies. See in: genome view
Overlapping variant regions from other studies: 14389 SVs from 38 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3920352 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000015.10 | Chr15 | 83,711,377 | 101,843,270 |
| nsv3920352 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 84,380,129 | 102,383,473 |
| nsv3920352 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000015.8 | Chr15 | 82,171,133 | 100,200,996 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15148063 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000135858.5, VCV000146595.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15148063 | Submitted genomic | NC_000015.10:g.(?_ 83711377)_(1018432 70_?)dup | GRCh38 (hg38) | NC_000015.10 | Chr15 | 83,711,377 | 101,843,270 |
| nssv15148063 | Submitted genomic | NC_000015.9:g.(?_8 4380129)_(10238347 3_?)dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 84,380,129 | 102,383,473 |
| nssv15148063 | Submitted genomic | NC_000015.8:g.(?_8 2171133)_(10020099 6_?)dup | NCBI36 (hg18) | NC_000015.8 | Chr15 | 82,171,133 | 100,200,996 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15148063 | GRCh37: NC_000015.9:g.(?_84380129)_(102383473_?)dup, GRCh38: NC_000015.10:g.(?_83711377)_(101843270_?)dup, NCBI36: NC_000015.8:g.(?_82171133)_(100200996_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000135858.5, VCV000146595.2 | 3 |