nsv3878603
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:36,924
- Description:NM_001510.3(GRID2):c.530-12057_735+24661del369
24 AND Autosomal recessive spinocerebellar ataxia 18 - Publication(s):Hills et al. 2013
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 218 SVs from 45 studies. See in: genome view
Overlapping variant regions from other studies: 218 SVs from 45 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv3878603 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000004.12 | Chr4 | 93,098,691 | 93,135,614 |
| nsv3878603 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 94,019,842 | 94,056,765 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15122344 | deletion | Multiple | Multiple | Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency; SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18; SCAR18; Spinocerebellar ataxia, autosomal recessive 18 | Pathogenic | ClinVar | RCV000156931.4, VCV000180132.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv15122344 | Submitted genomic | NC_000004.12:g.930 98691_93135614del | GRCh38 (hg38) | NC_000004.12 | Chr4 | 93,098,691 | 93,135,614 |
| nssv15122344 | Submitted genomic | NC_000004.11:g.940 19842_94056765del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 94,019,842 | 94,056,765 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15122344 | GRCh37: NC_000004.11:g.94019842_94056765del, GRCh38: NC_000004.12:g.93098691_93135614del | deletion | germline | Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency; SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18; SCAR18; Spinocerebellar ataxia, autosomal recessive 18 | Pathogenic | ClinVar | RCV000156931.4, VCV000180132.1 |