nsv3915273
- 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:65,569
- Description:GRCh38/hg38 15q21.1(chr15:48436038-48501606)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: 278 SVs from 46 studies. See in: genome view
Overlapping variant regions from other studies: 278 SVs from 46 studies. See in: genome view
Overlapping variant regions from other studies: 50 SVs from 8 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3915273 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000015.10 | Chr15 | 48,436,038 | 48,501,606 |
| nsv3915273 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 48,728,235 | 48,793,803 |
| nsv3915273 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000015.8 | Chr15 | 46,515,527 | 46,581,095 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15131844 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000133684.4, VCV000144202.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15131844 | Submitted genomic | NC_000015.10:g.(?_ 48436038)_(4850160 6_?)dup | GRCh38 (hg38) | NC_000015.10 | Chr15 | 48,436,038 | 48,501,606 |
| nssv15131844 | Submitted genomic | NC_000015.9:g.(?_4 8728235)_(48793803 _?)dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 48,728,235 | 48,793,803 |
| nssv15131844 | Submitted genomic | NC_000015.8:g.(?_4 6515527)_(46581095 _?)dup | NCBI36 (hg18) | NC_000015.8 | Chr15 | 46,515,527 | 46,581,095 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15131844 | GRCh37: NC_000015.9:g.(?_48728235)_(48793803_?)dup, GRCh38: NC_000015.10:g.(?_48436038)_(48501606_?)dup, NCBI36: NC_000015.8:g.(?_46515527)_(46581095_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000133684.4, VCV000144202.2 | 3 |