nsv6310620
- 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:189,133
- Description:NC_000019.9:g.(?_13427906)_(13617038_?)del AND multiple conditions
- Publication(s):Bird et al. 1998, 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: 573 SVs from 56 studies. See in: genome view
Overlapping variant regions from other studies: 573 SVs from 56 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 |
---|---|---|---|---|---|---|---|---|---|
nsv6310620 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 13,317,092 | 13,506,224 |
nsv6310620 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 13,427,906 | 13,617,038 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
---|---|---|---|---|---|---|---|
nssv17970758 | deletion | Multiple | Multiple | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42; EIEE42; EPISODIC ATAXIA, TYPE 2; EA2; Epileptic encephalopathy, early infantile, 42; Episodic ataxia type 2; Familial paroxysmal ataxia | Pathogenic | ClinVar | RCV001944498.3, VCV001366064.4 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17970758 | Remapped | Perfect | NC_000019.10:g.(?_ 13317092)_(1350622 4_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 13,317,092 | 13,506,224 |
nssv17970758 | Submitted genomic | NC_000019.9:g.(?_1 3427906)_(13617038 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 13,427,906 | 13,617,038 |
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 |
---|---|---|---|---|---|---|---|
nssv17970758 | GRCh37: NC_000019.9:g.(?_13427906)_(13617038_?)del | deletion | germline | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42; EIEE42; EPISODIC ATAXIA, TYPE 2; EA2; Epileptic encephalopathy, early infantile, 42; Episodic ataxia type 2; Familial paroxysmal ataxia | Pathogenic | ClinVar | RCV001944498.3, VCV001366064.4 |