nsv7095905
- 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:208,202
- Description:NC_000020.10:g.(?_5086814)_(5295015_?)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: 596 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 596 SVs from 60 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv7095905 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000020.11 | Chr20 | 5,106,168 | 5,314,369 |
| nsv7095905 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000020.10 | Chr20 | 5,086,814 | 5,295,015 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18791504 | duplication | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV003105399.2, VCV002423462.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18791504 | Remapped | Perfect | NC_000020.11:g.(?_ 5106168)_(5314369_ ?)dup | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 5,106,168 | 5,314,369 |
| nssv18791504 | Submitted genomic | NC_000020.10:g.(?_ 5086814)_(5295015_ ?)dup | GRCh37 (hg19) | NC_000020.10 | Chr20 | 5,086,814 | 5,295,015 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18791504 | GRCh37: NC_000020.10:g.(?_5086814)_(5295015_?)dup | duplication | germline | not provided | Uncertain significance | ClinVar | RCV003105399.2, VCV002423462.2 |