nsv1398393
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38, NCBI36
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:85,163
- Description:GRCh38/hg38 19p13.13(chr19:13408530-13493692)x1 AND Episodic ataxia type 2
- Publication(s):Bird et al. 1998, Damaj et al. 2015, Gasser et al. 2009
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 275 SVs from 40 studies. See in: genome view
Overlapping variant regions from other studies: 275 SVs from 40 studies. See in: genome view
Overlapping variant regions from other studies: 64 SVs from 9 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv1398393 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000019.10 | Chr19 | 13,408,530 | 13,493,692 |
| nsv1398393 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 13,519,344 | 13,604,506 |
| nsv1398393 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000019.8 | Chr19 | 13,380,344 | 13,465,506 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv8639745 | copy number loss | Multiple | Multiple | EPISODIC ATAXIA, TYPE 2; EA2; Episodic ataxia type 2; Familial paroxysmal ataxia | Pathogenic | ClinVar | RCV000169642.1, VCV000187830.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv8639745 | Submitted genomic | NC_000019.10:g.134 08530_13493692del | GRCh38 (hg38) | NC_000019.10 | Chr19 | 13,408,530 | 13,493,692 |
| nssv8639745 | Submitted genomic | NC_000019.9:g.1351 9344_13604506del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 13,519,344 | 13,604,506 |
| nssv8639745 | Submitted genomic | NC_000019.8:g.1338 0344_13465506del | NCBI36 (hg18) | NC_000019.8 | Chr19 | 13,380,344 | 13,465,506 |
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 | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv8639745 | GRCh37: NC_000019.9:g.13519344_13604506del, GRCh38: NC_000019.10:g.13408530_13493692del, NCBI36: NC_000019.8:g.13380344_13465506del | copy number loss | see ClinVar for details | EPISODIC ATAXIA, TYPE 2; EA2; Episodic ataxia type 2; Familial paroxysmal ataxia | Pathogenic | ClinVar | RCV000169642.1, VCV000187830.1 | 1 |