nsv4450510
- 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:6,218,366
- Description:GRCh37/hg19 2p12(chr2:76157543-82375906)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: 16026 SVs from 122 studies. See in: genome view
Overlapping variant regions from other studies: 16026 SVs from 122 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4450510 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 75,930,417 | 82,148,782 |
| nsv4450510 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 76,157,543 | 82,375,906 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15775707 | copy number loss | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV000847807.2, VCV000687099.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15775707 | Remapped | Perfect | NC_000002.12:g.(?_ 75930417)_(8214878 2_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 75,930,417 | 82,148,782 |
| nssv15775707 | Submitted genomic | NC_000002.11:g.(?_ 76157543)_(8237590 6_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 76,157,543 | 82,375,906 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15775707 | GRCh37: NC_000002.11:g.(?_76157543)_(82375906_?)del | copy number loss | unknown | not provided | Uncertain significance | ClinVar | RCV000847807.2, VCV000687099.2 | 1 |