nsv3901601
- 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:5,710,474
- Description:GRCh37/hg19 18q12.1-12.2(chr18:30368042-36078516)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: 12088 SVs from 117 studies. See in: genome view
Overlapping variant regions from other studies: 12091 SVs from 117 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3901601 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000018.10 | Chr18 | 32,788,079 | 38,498,552 |
| nsv3901601 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000018.9 | Chr18 | 30,368,042 | 36,078,516 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15150403 | copy number loss | Multiple | Multiple | See cases | Likely pathogenic | ClinVar | RCV000511858.2, VCV000442113.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15150403 | Remapped | Perfect | NC_000018.10:g.(?_ 32788079)_(3849855 2_?)del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 32,788,079 | 38,498,552 |
| nssv15150403 | Submitted genomic | NC_000018.9:g.(?_3 0368042)_(36078516 _?)del | GRCh37 (hg19) | NC_000018.9 | Chr18 | 30,368,042 | 36,078,516 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15150403 | GRCh37: NC_000018.9:g.(?_30368042)_(36078516_?)del | copy number loss | not provided | See cases | Likely pathogenic | ClinVar | RCV000511858.2, VCV000442113.2 | 1 |