nsv5380931
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:398,205
- Description:
See descriptions for individual calls in download files
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 1452 SVs from 87 studies. See in: genome view
Overlapping variant regions from other studies: 1452 SVs from 87 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 |
---|---|---|---|---|---|---|---|---|---|
nsv5380931 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 29,790,760 | 30,188,964 |
nsv5380931 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 29,802,081 | 30,200,285 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
---|---|---|---|---|---|---|---|
nssv16867048 | duplication | Multiple | Multiple | Dystonia 10; Episodic kinesigenic dyskinesia; Paroxysmal kinesigenic dyskinesia | Uncertain significance | ClinVar | RCV001325791.1, VCV001025477.1 |
nssv17171739 | deletion | Multiple | Multiple | Dystonia 10; Episodic kinesigenic dyskinesia; Paroxysmal kinesigenic dyskinesia | Pathogenic | ClinVar | RCV001388947.1, VCV001075384.1 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16867048 | Remapped | Perfect | NC_000016.10:g.(?_ 29790760)_(3018896 4_?)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 29,790,760 | 30,188,964 |
nssv17171739 | Remapped | Perfect | NC_000016.10:g.(?_ 29790760)_(3018896 4_?)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 29,790,760 | 30,188,964 |
nssv16867048 | Submitted genomic | NC_000016.9:g.(?_2 9802081)_(30200285 _?)dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 29,802,081 | 30,200,285 | ||
nssv17171739 | Submitted genomic | NC_000016.9:g.(?_2 9802081)_(30200285 _?)del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 29,802,081 | 30,200,285 |
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 |
---|---|---|---|---|---|---|---|
nssv16867048 | GRCh37: NC_000016.9:g.(?_29802081)_(30200285_?)dup | duplication | germline | Dystonia 10; Episodic kinesigenic dyskinesia; Paroxysmal kinesigenic dyskinesia | Uncertain significance | ClinVar | RCV001325791.1, VCV001025477.1 |
nssv17171739 | GRCh37: NC_000016.9:g.(?_29802081)_(30200285_?)del | deletion | germline | Dystonia 10; Episodic kinesigenic dyskinesia; Paroxysmal kinesigenic dyskinesia | Pathogenic | ClinVar | RCV001388947.1, VCV001075384.1 |