nsv3923085
- 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:12,118,963
- Description:GRCh38/hg38 15q11.1-13.3(chr15:20002460-32121422)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: 44873 SVs from 145 studies. See in: genome view
Overlapping variant regions from other studies: 44690 SVs from 145 studies. See in: genome view
Overlapping variant regions from other studies: 16885 SVs from 40 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3923085 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000015.10 | Chr15 | 20,002,460 | 32,121,422 |
| nsv3923085 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 20,207,713 | 32,413,623 |
| nsv3923085 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000015.8 | Chr15 | 18,467,727 | 30,200,915 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15145747 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000052340.5, VCV000058569.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15145747 | Submitted genomic | NC_000015.10:g.(?_ 20002460)_(3212142 2_?)dup | GRCh38 (hg38) | NC_000015.10 | Chr15 | 20,002,460 | 32,121,422 |
| nssv15145747 | Submitted genomic | NC_000015.9:g.(?_2 0207713)_(32413623 _?)dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 20,207,713 | 32,413,623 |
| nssv15145747 | Submitted genomic | NC_000015.8:g.(?_1 8467727)_(30200915 _?)dup | NCBI36 (hg18) | NC_000015.8 | Chr15 | 18,467,727 | 30,200,915 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15145747 | GRCh37: NC_000015.9:g.(?_20207713)_(32413623_?)dup, GRCh38: NC_000015.10:g.(?_20002460)_(32121422_?)dup, NCBI36: NC_000015.8:g.(?_18467727)_(30200915_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000052340.5, VCV000058569.2 | 3 |