nsv6291817
- 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:372,939
- Description:GRCh37/hg19 15q21.1(chr15:48149321-48522259)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: 796 SVs from 66 studies. See in: genome view
Overlapping variant regions from other studies: 796 SVs from 66 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6291817 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 47,857,124 | 48,230,062 |
| nsv6291817 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 48,149,321 | 48,522,259 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv17956754 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001829046.1, VCV001340836.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17956754 | Remapped | Perfect | NC_000015.10:g.(?_ 47857124)_(4823006 2_?)dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 47,857,124 | 48,230,062 |
| nssv17956754 | Submitted genomic | NC_000015.9:g.(?_4 8149321)_(48522259 _?)dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 48,149,321 | 48,522,259 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv17956754 | GRCh37: NC_000015.9:g.(?_48149321)_(48522259_?)dup | copy number gain | germline | not provided | Uncertain significance | ClinVar | RCV001829046.1, VCV001340836.1 | 3 |