nsv6634330
- 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:99,244,228
- Description:GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1 AND See cases
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 242039 SVs from 148 studies. See in: genome view
Overlapping variant regions from other studies: 241273 SVs from 148 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6634330 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 11,364,192 | 110,608,419 |
| nsv6634330 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 11,504,318 | 111,365,996 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18326420 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV002287563.1, VCV001708190.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18326420 | Remapped | Good | NC_000002.12:g.(11 364192_?)_(?_11060 8419)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 11,364,192 | 110,608,419 |
| nssv18326420 | Submitted genomic | NC_000002.11:g.(11 504318_?)_(?_11136 5996)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 11,504,318 | 111,365,996 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18326420 | GRCh37: NC_000002.11:g.(11504318_?)_(?_111365996)del | copy number loss | unknown | See cases | Pathogenic | ClinVar | RCV002287563.1, VCV001708190.1 | 1 |