nsv3910454
- 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:99,904
- Description:GRCh38/hg38 15q26.3(chr15:99951833-100051736)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: 529 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 529 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 196 SVs from 20 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3910454 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000015.10 | Chr15 | 99,951,833 | 100,051,736 |
| nsv3910454 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 100,492,038 | 100,591,941 |
| nsv3910454 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000015.8 | Chr15 | 98,309,561 | 98,409,464 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15134227 | copy number gain | Multiple | Multiple | See cases | Benign | ClinVar | RCV000135834.4, VCV000146570.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15134227 | Submitted genomic | NC_000015.10:g.(?_ 99951833)_(1000517 36_?)dup | GRCh38 (hg38) | NC_000015.10 | Chr15 | 99,951,833 | 100,051,736 |
| nssv15134227 | Submitted genomic | NC_000015.9:g.(?_1 00492038)_(1005919 41_?)dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 100,492,038 | 100,591,941 |
| nssv15134227 | Submitted genomic | NC_000015.8:g.(?_9 8309561)_(98409464 _?)dup | NCBI36 (hg18) | NC_000015.8 | Chr15 | 98,309,561 | 98,409,464 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15134227 | GRCh37: NC_000015.9:g.(?_100492038)_(100591941_?)dup, GRCh38: NC_000015.10:g.(?_99951833)_(100051736_?)dup, NCBI36: NC_000015.8:g.(?_98309561)_(98409464_?)dup | copy number gain | tested-inconclusive | See cases | Benign | ClinVar | RCV000135834.4, VCV000146570.2 | 3 |