nsv6291260
- 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:121,531
- Description:GRCh37/hg19 2q36.3(chr2:230689315-230810845)x1 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: 464 SVs from 43 studies. See in: genome view
Overlapping variant regions from other studies: 464 SVs from 43 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6291260 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 229,824,599 | 229,946,129 |
| nsv6291260 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 230,689,315 | 230,810,845 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv17956777 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001829069.1, VCV001340890.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17956777 | Remapped | Perfect | NC_000002.12:g.(?_ 229824599)_(229946 129_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 229,824,599 | 229,946,129 |
| nssv17956777 | Submitted genomic | NC_000002.11:g.(?_ 230689315)_(230810 845_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 230,689,315 | 230,810,845 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv17956777 | GRCh37: NC_000002.11:g.(?_230689315)_(230810845_?)del | copy number loss | germline | not provided | Pathogenic | ClinVar | RCV001829069.1, VCV001340890.1 | 1 |