nsv7095483
- 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:2,692
- Description:NC_000001.10:g.(?_156130214)_(156132905_?)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: 95 SVs from 19 studies. See in: genome view
Overlapping variant regions from other studies: 100 SVs from 20 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv7095483 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 156,160,423 | 156,163,114 |
| nsv7095483 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 156,130,214 | 156,132,905 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18789432 | duplication | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV003111477.2, VCV002426742.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18789432 | Remapped | Perfect | NC_000001.11:g.(?_ 156160423)_(156163 114_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 156,160,423 | 156,163,114 |
| nssv18789432 | Submitted genomic | NC_000001.10:g.(?_ 156130214)_(156132 905_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 156,130,214 | 156,132,905 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18789432 | GRCh37: NC_000001.10:g.(?_156130214)_(156132905_?)dup | duplication | germline | not provided | Uncertain significance | ClinVar | RCV003111477.2, VCV002426742.2 |