nsv5380954
- 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:1,056,389
- Description:NC_000011.9:g.(?_119077108)_(120133495_?)dup AND RASopathy
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 2744 SVs from 83 studies. See in: genome view
Overlapping variant regions from other studies: 2750 SVs from 83 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv5380954 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 119,206,398 | 120,262,786 |
| nsv5380954 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 119,077,108 | 120,133,495 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16866591 | duplication | Multiple | Multiple | RASopathy | Uncertain significance | ClinVar | RCV001314250.1, VCV001015400.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16866591 | Remapped | Perfect | NC_000011.10:g.(?_ 119206398)_(120262 786_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 119,206,398 | 120,262,786 |
| nssv16866591 | Submitted genomic | NC_000011.9:g.(?_1 19077108)_(1201334 95_?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 119,077,108 | 120,133,495 |
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 |
|---|---|---|---|---|---|---|---|
| nssv16866591 | GRCh37: NC_000011.9:g.(?_119077108)_(120133495_?)dup | duplication | germline | RASopathy | Uncertain significance | ClinVar | RCV001314250.1, VCV001015400.1 |