nsv7098788
- 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:5,321,828
- Description:NC_000004.11:g.(?_101947022)_(107268849_?)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: 13057 SVs from 119 studies. See in: genome view
Overlapping variant regions from other studies: 13079 SVs from 119 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv7098788 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 101,025,865 | 106,347,692 |
| nsv7098788 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 101,947,022 | 107,268,849 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18792635 | duplication | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV003154901.1, VCV002445492.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18792635 | Remapped | Perfect | NC_000004.12:g.(?_ 101025865)_(106347 692_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 101,025,865 | 106,347,692 |
| nssv18792635 | Submitted genomic | NC_000004.11:g.(?_ 101947022)_(107268 849_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 101,947,022 | 107,268,849 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18792635 | GRCh37: NC_000004.11:g.(?_101947022)_(107268849_?)dup | duplication | germline | not provided | Uncertain significance | ClinVar | RCV003154901.1, VCV002445492.1 |