nsv7096556
- 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:2,670,504
- Description:NC_000003.11:g.(?_189455509)_(192126012_?)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: 7832 SVs from 113 studies. See in: genome view
Overlapping variant regions from other studies: 7832 SVs from 113 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv7096556 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 189,737,720 | 192,408,223 |
| nsv7096556 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 189,455,509 | 192,126,012 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18788843 | duplication | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV003109805.2, VCV002426654.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18788843 | Remapped | Perfect | NC_000003.12:g.(?_ 189737720)_(192408 223_?)dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 189,737,720 | 192,408,223 |
| nssv18788843 | Submitted genomic | NC_000003.11:g.(?_ 189455509)_(192126 012_?)dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 189,455,509 | 192,126,012 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18788843 | GRCh37: NC_000003.11:g.(?_189455509)_(192126012_?)dup | duplication | germline | not provided | Uncertain significance | ClinVar | RCV003109805.2, VCV002426654.2 |