nsv5980431
- 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:10,597
- Description:NC_000011.9:g.(108225602_108235808)_(108236198
_?)dup AND not specified
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 112 SVs from 27 studies. See in: genome view
Overlapping variant regions from other studies: 112 SVs from 27 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|---|
| nsv5980431 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 108,354,875 | 108,365,081 | 108,365,471 |
| nsv5980431 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 108,225,602 | 108,235,808 | 108,236,198 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17517443 | duplication | Multiple | Multiple | not specified | Uncertain significance | ClinVar | RCV001526948.4, VCV001172866.4 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|---|
| nssv17517443 | Remapped | Perfect | NC_000011.10:g.(10 8354875_108365081) _(108365471_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 108,354,875 | 108,365,081 | 108,365,471 |
| nssv17517443 | Submitted genomic | NC_000011.9:g.(108 225602_108235808)_ (108236198_?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 108,225,602 | 108,235,808 | 108,236,198 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17517443 | GRCh37: NC_000011.9:g.(108225602_108235808)_(108236198_?)dup | duplication | germline | not specified | Uncertain significance | ClinVar | RCV001526948.4, VCV001172866.4 |