nsv1398080
- 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:19,750,541
- Description:GRCh37/hg19 4p16.3-15.31(chr4:44020-19796182)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: 64733 SVs from 137 studies. See in: genome view
Overlapping variant regions from other studies: 64655 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1398080 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 44,019 | 19,794,559 |
| nsv1398080 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 44,020 | 19,796,182 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv8639431 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000203431.3, VCV000219020.4 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv8639431 | Remapped | Good | NC_000004.12:g.(?_ 44019)_(19794559_? )del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 44,019 | 19,794,559 |
| nssv8639431 | Submitted genomic | NC_000004.11:g.(?_ 44020)_(19796182_? )del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 44,020 | 19,796,182 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv8639431 | GRCh37: NC_000004.11:g.(?_44020)_(19796182_?)del | copy number loss | unknown | See cases | Pathogenic | ClinVar | RCV000203431.3, VCV000219020.4 | 1 |