nsv6634351
- 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:31,782,988
- Description:GRCh37/hg19 4q32.1-35.2(chr4:159174483-190957473)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: 108709 SVs from 147 studies. See in: genome view
Overlapping variant regions from other studies: 108719 SVs from 145 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6634351 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 158,253,331 | 190,036,318 |
| nsv6634351 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 159,174,483 | 190,957,473 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18326362 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV002292401.1, VCV001711100.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18326362 | Remapped | Perfect | NC_000004.12:g.(15 8253331_?)_(?_1900 36318)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 158,253,331 | 190,036,318 |
| nssv18326362 | Submitted genomic | NC_000004.11:g.(15 9174483_?)_(?_1909 57473)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 159,174,483 | 190,957,473 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18326362 | GRCh37: NC_000004.11:g.(159174483_?)_(?_190957473)del | copy number loss | unknown | See cases | Pathogenic | ClinVar | RCV002292401.1, VCV001711100.1 | 1 |