nsv4681514
- 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:1,559,986
- Description:
See descriptions for individual calls in download files - Publication(s):Furukawa et al. 2008
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 9080 SVs from 110 studies. See in: genome view
Overlapping variant regions from other studies: 8702 SVs from 110 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4681514 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 612,625 | 2,172,610 |
| nsv4681514 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 612,625 | 2,193,840 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16866191 | duplication | Multiple | Multiple | Autosomal recessive DOPA responsive dystonia; Autosomal recessive dopa-responsive dystonia; SEGAWA SYNDROME, AUTOSOMAL RECESSIVE; Tyrosine Hydroxylase Deficiency | Uncertain significance | ClinVar | RCV001301561.1, VCV001004798.1 |
| nssv17173245 | duplication | Multiple | Multiple | IMMUNODEFICIENCY 39; IMD39; Immunodeficiency 39 | Uncertain significance | ClinVar | RCV001033372.1, VCV001004798.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16866191 | Remapped | Good | NC_000011.10:g.(?_ 612625)_(2172610_? )dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 612,625 | 2,172,610 |
| nssv17173245 | Remapped | Good | NC_000011.10:g.(?_ 612625)_(2172610_? )dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 612,625 | 2,172,610 |
| nssv16866191 | Submitted genomic | NC_000011.9:g.(?_6 12625)_(2193840_?) dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 612,625 | 2,193,840 | ||
| nssv17173245 | Submitted genomic | NC_000011.9:g.(?_6 12625)_(2193840_?) dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 612,625 | 2,193,840 |
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 |
|---|---|---|---|---|---|---|---|
| nssv16866191 | GRCh37: NC_000011.9:g.(?_612625)_(2193840_?)dup | duplication | germline | Autosomal recessive DOPA responsive dystonia; Autosomal recessive dopa-responsive dystonia; SEGAWA SYNDROME, AUTOSOMAL RECESSIVE; Tyrosine Hydroxylase Deficiency | Uncertain significance | ClinVar | RCV001301561.1, VCV001004798.1 |
| nssv17173245 | GRCh37: NC_000011.9:g.(?_612625)_(2193840_?)dup | duplication | germline | IMMUNODEFICIENCY 39; IMD39; Immunodeficiency 39 | Uncertain significance | ClinVar | RCV001033372.1, VCV001004798.1 |