nsv3913752
- 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:2,169,048
- Description:GRCh38/hg38 15q13.2-13.3(chr15:30438310-32607357)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: 6793 SVs from 125 studies. See in: genome view
Overlapping variant regions from other studies: 6793 SVs from 125 studies. See in: genome view
Overlapping variant regions from other studies: 2469 SVs from 35 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3913752 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000015.10 | Chr15 | 30,438,310 | 32,607,357 |
| nsv3913752 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 30,730,513 | 32,899,558 |
| nsv3913752 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000015.8 | Chr15 | 28,517,805 | 30,686,850 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15134158 | copy number gain | Multiple | Multiple | See cases | Conflicting interpretations of pathogenicity | ClinVar | RCV000135452.6, VCV000146129.3 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15134158 | Submitted genomic | NC_000015.10:g.(?_ 30438310)_(3260735 7_?)dup | GRCh38 (hg38) | NC_000015.10 | Chr15 | 30,438,310 | 32,607,357 |
| nssv15134158 | Submitted genomic | NC_000015.9:g.(?_3 0730513)_(32899558 _?)dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 30,730,513 | 32,899,558 |
| nssv15134158 | Submitted genomic | NC_000015.8:g.(?_2 8517805)_(30686850 _?)dup | NCBI36 (hg18) | NC_000015.8 | Chr15 | 28,517,805 | 30,686,850 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15134158 | GRCh37: NC_000015.9:g.(?_30730513)_(32899558_?)dup, GRCh38: NC_000015.10:g.(?_30438310)_(32607357_?)dup, NCBI36: NC_000015.8:g.(?_28517805)_(30686850_?)dup | copy number gain | see ClinVar for details | See cases | Conflicting interpretations of pathogenicity | ClinVar | RCV000135452.6, VCV000146129.3 | 3 |