nsv7094736
- 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:9,108
- Description:NC_000015.9:g.(?_82545012)_(82554119_?)dup 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: 134 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 135 SVs from 31 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv7094736 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 82,252,671 | 82,261,778 |
| nsv7094736 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 82,545,012 | 82,554,119 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18787666 | duplication | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV003122669.2, VCV002426836.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18787666 | Remapped | Perfect | NC_000015.10:g.(?_ 82252671)_(8226177 8_?)dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 82,252,671 | 82,261,778 |
| nssv18787666 | Submitted genomic | NC_000015.9:g.(?_8 2545012)_(82554119 _?)dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 82,545,012 | 82,554,119 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18787666 | GRCh37: NC_000015.9:g.(?_82545012)_(82554119_?)dup | duplication | germline | not provided | Uncertain significance | ClinVar | RCV003122669.2, VCV002426836.2 |