nsv4676158
- 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:22,465,048
- Description:GRCh37/hg19 18q21.31-23(chr18:55458425-78014123)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: 76064 SVs from 132 studies. See in: genome view
Overlapping variant regions from other studies: 75951 SVs from 132 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4676158 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000018.10 | Chr18 | 57,791,193 | 80,256,240 |
| nsv4676158 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000018.9 | Chr18 | 55,458,425 | 78,014,123 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16208541 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001007017.1, VCV000816051.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16208541 | Remapped | Good | NC_000018.10:g.(?_ 57791193)_(8025624 0_?)del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 57,791,193 | 80,256,240 |
| nssv16208541 | Submitted genomic | NC_000018.9:g.(?_5 5458425)_(78014123 _?)del | GRCh37 (hg19) | NC_000018.9 | Chr18 | 55,458,425 | 78,014,123 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16208541 | GRCh37: NC_000018.9:g.(?_55458425)_(78014123_?)del | copy number loss | germline | not provided | Pathogenic | ClinVar | RCV001007017.1, VCV000816051.1 | 1 |