nsv6290805
- 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:1,587,665
- Description:GRCh37/hg19 2q14.2(chr2:119967365-121555029)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: 3441 SVs from 93 studies. See in: genome view
Overlapping variant regions from other studies: 3441 SVs from 93 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6290805 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 119,209,789 | 120,797,453 |
| nsv6290805 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 119,967,365 | 121,555,029 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv17956901 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001829193.1, VCV001341178.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17956901 | Remapped | Perfect | NC_000002.12:g.(?_ 119209789)_(120797 453_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 119,209,789 | 120,797,453 |
| nssv17956901 | Submitted genomic | NC_000002.11:g.(?_ 119967365)_(121555 029_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 119,967,365 | 121,555,029 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv17956901 | GRCh37: NC_000002.11:g.(?_119967365)_(121555029_?)dup | copy number gain | germline | not provided | Uncertain significance | ClinVar | RCV001829193.1, VCV001341178.1 | 3 |