nsv4674378
- 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:24,229,304
- Description:GRCh37/hg19 4p16.3-15.2(chr4:49450-24280482)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: 76873 SVs from 137 studies. See in: genome view
Overlapping variant regions from other studies: 76809 SVs from 137 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4674378 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 49,556 | 24,278,859 |
| nsv4674378 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 49,450 | 24,280,482 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16208663 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV001007422.1, VCV000816497.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16208663 | Remapped | Good | NC_000004.12:g.(?_ 49556)_(24278859_? )del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 49,556 | 24,278,859 |
| nssv16208663 | Submitted genomic | NC_000004.11:g.(?_ 49450)_(24280482_? )del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 49,450 | 24,280,482 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16208663 | GRCh37: NC_000004.11:g.(?_49450)_(24280482_?)del | copy number loss | unknown | See cases | Pathogenic | ClinVar | RCV001007422.1, VCV000816497.1 | 1 |