nsv4676112
- 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:1,344,040
- Description:GRCh37/hg19 19p13.12(chr19:14368330-15712368)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: 5257 SVs from 104 studies. See in: genome view
Overlapping variant regions from other studies: 5257 SVs from 104 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4676112 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 14,257,518 | 15,601,557 |
| nsv4676112 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 14,368,330 | 15,712,368 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16208995 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001007034.1, VCV000816068.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16208995 | Remapped | Perfect | NC_000019.10:g.(?_ 14257518)_(1560155 7_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 14,257,518 | 15,601,557 |
| nssv16208995 | Submitted genomic | NC_000019.9:g.(?_1 4368330)_(15712368 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 14,368,330 | 15,712,368 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16208995 | GRCh37: NC_000019.9:g.(?_14368330)_(15712368_?)del | copy number loss | germline | not provided | Pathogenic | ClinVar | RCV001007034.1, VCV000816068.1 | 1 |