nsv7094046
- 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:786,804
- Description:NC_000012.11:g.(?_4368352)_(5155155_?)dup AND Episodic ataxia type 1
- Publication(s):Bird et al. 1998, Gasser et al. 2009, Hasan et al. 2010
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 2008 SVs from 90 studies. See in: genome view
Overlapping variant regions from other studies: 2008 SVs from 90 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv7094046 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 4,259,186 | 5,045,989 |
| nsv7094046 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 4,368,352 | 5,155,155 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18787205 | duplication | Multiple | Multiple | EPISODIC ATAXIA, TYPE 1; EA1; Episodic Ataxia Type 1; Episodic ataxia type 1; Hereditary continuous muscle fiber activity | Uncertain significance | ClinVar | RCV003122188.2, VCV002422593.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18787205 | Remapped | Perfect | NC_000012.12:g.(?_ 4259186)_(5045989_ ?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 4,259,186 | 5,045,989 |
| nssv18787205 | Submitted genomic | NC_000012.11:g.(?_ 4368352)_(5155155_ ?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 4,368,352 | 5,155,155 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18787205 | GRCh37: NC_000012.11:g.(?_4368352)_(5155155_?)dup | duplication | germline | EPISODIC ATAXIA, TYPE 1; EA1; Episodic Ataxia Type 1; Episodic ataxia type 1; Hereditary continuous muscle fiber activity | Uncertain significance | ClinVar | RCV003122188.2, VCV002422593.2 |