nsv5381215
- 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:9,783
- Description:NC_000001.10:g.(?_247607254)_(247617036_?)dup AND Cryopyrin associated periodic syndrome
- Publication(s):Shinar et al. 2020
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 146 SVs from 35 studies. See in: genome view
Overlapping variant regions from other studies: 147 SVs from 35 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv5381215 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 247,443,952 | 247,453,734 |
| nsv5381215 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 247,607,254 | 247,617,036 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16866125 | duplication | Multiple | Multiple | Cryopyrin associated periodic syndrome | Uncertain significance | ClinVar | RCV001300462.3, VCV001003853.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16866125 | Remapped | Perfect | NC_000001.11:g.(?_ 247443952)_(247453 734_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 247,443,952 | 247,453,734 |
| nssv16866125 | Submitted genomic | NC_000001.10:g.(?_ 247607254)_(247617 036_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 247,607,254 | 247,617,036 |
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 |
|---|---|---|---|---|---|---|---|
| nssv16866125 | GRCh37: NC_000001.10:g.(?_247607254)_(247617036_?)dup | duplication | germline | Cryopyrin associated periodic syndrome | Uncertain significance | ClinVar | RCV001300462.3, VCV001003853.3 |