nsv4453443
- 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:26,530
- Description:GRCh37/hg19 1q42.2(chr1:234491689-234518218)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: 147 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 148 SVs from 31 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4453443 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 234,355,943 | 234,382,472 |
| nsv4453443 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 234,491,689 | 234,518,218 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15775188 | copy number loss | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV000846951.2, VCV000686243.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15775188 | Remapped | Perfect | NC_000001.11:g.(?_ 234355943)_(234382 472_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 234,355,943 | 234,382,472 |
| nssv15775188 | Submitted genomic | NC_000001.10:g.(?_ 234491689)_(234518 218_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 234,491,689 | 234,518,218 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15775188 | GRCh37: NC_000001.10:g.(?_234491689)_(234518218_?)del | copy number loss | unknown | not provided | Uncertain significance | ClinVar | RCV000846951.2, VCV000686243.2 | 1 |