nsv4675025
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:245,546
- Description:GRCh37/hg19 15q22.2-22.31(chr15:63555363-63800908)x3 AND not provided
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 712 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 712 SVs from 60 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4675025 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 63,263,164 | 63,508,709 |
| nsv4675025 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 63,555,363 | 63,800,908 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16207230 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001006703.1, VCV000815728.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16207230 | Remapped | Perfect | NC_000015.10:g.(?_ 63263164)_(6350870 9_?)dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 63,263,164 | 63,508,709 |
| nssv16207230 | Submitted genomic | NC_000015.9:g.(?_6 3555363)_(63800908 _?)dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 63,555,363 | 63,800,908 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16207230 | GRCh37: NC_000015.9:g.(?_63555363)_(63800908_?)dup | copy number gain | germline | not provided | Uncertain significance | ClinVar | RCV001006703.1, VCV000815728.1 | 3 |