nsv5381307
- 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:96,368
- Description:NC_000020.10:g.(?_62559699)_(62656066_?)dup 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: 645 SVs from 76 studies. See in: genome view
Overlapping variant regions from other studies: 645 SVs from 76 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv5381307 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000020.11 | Chr20 | 63,928,346 | 64,024,713 |
| nsv5381307 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000020.10 | Chr20 | 62,559,699 | 62,656,066 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16866918 | duplication | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001323558.3, VCV001023510.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16866918 | Remapped | Perfect | NC_000020.11:g.(?_ 63928346)_(6402471 3_?)dup | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 63,928,346 | 64,024,713 |
| nssv16866918 | Submitted genomic | NC_000020.10:g.(?_ 62559699)_(6265606 6_?)dup | GRCh37 (hg19) | NC_000020.10 | Chr20 | 62,559,699 | 62,656,066 |
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 |
|---|---|---|---|---|---|---|---|
| nssv16866918 | GRCh37: NC_000020.10:g.(?_62559699)_(62656066_?)dup | duplication | germline | not provided | Uncertain significance | ClinVar | RCV001323558.3, VCV001023510.3 |