nsv4456613
- 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:243,571
- Description:GRCh37/hg19 4q22.1(chr4:93326311-93569881)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: 1058 SVs from 83 studies. See in: genome view
Overlapping variant regions from other studies: 1058 SVs from 83 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4456613 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 92,405,160 | 92,648,730 |
| nsv4456613 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 93,326,311 | 93,569,881 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15773105 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000848951.2, VCV000688260.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15773105 | Remapped | Perfect | NC_000004.12:g.(?_ 92405160)_(9264873 0_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 92,405,160 | 92,648,730 |
| nssv15773105 | Submitted genomic | NC_000004.11:g.(?_ 93326311)_(9356988 1_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 93,326,311 | 93,569,881 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15773105 | GRCh37: NC_000004.11:g.(?_93326311)_(93569881_?)del | copy number loss | unknown | not provided | Pathogenic | ClinVar | RCV000848951.2, VCV000688260.2 | 1 |