nsv5564166
- 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:713,783
- Description:NC_000020.10:g.(?_3190178)_(3903961_?)dup AND Inosine triphosphatase deficiency
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 2696 SVs from 82 studies. See in: genome view
Overlapping variant regions from other studies: 2697 SVs from 82 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv5564166 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000020.11 | Chr20 | 3,209,532 | 3,923,314 |
| nsv5564166 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000020.10 | Chr20 | 3,190,178 | 3,903,961 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17059564 | duplication | Multiple | Multiple | INOSINE TRIPHOSPHATASE DEFICIENCY; Inosine triphosphatase deficiency | Uncertain significance | ClinVar | RCV001363028.1, VCV001054510.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17059564 | Remapped | Perfect | NC_000020.11:g.(?_ 3209532)_(3923314_ ?)dup | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 3,209,532 | 3,923,314 |
| nssv17059564 | Submitted genomic | NC_000020.10:g.(?_ 3190178)_(3903961_ ?)dup | GRCh37 (hg19) | NC_000020.10 | Chr20 | 3,190,178 | 3,903,961 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17059564 | GRCh37: NC_000020.10:g.(?_3190178)_(3903961_?)dup | duplication | germline | INOSINE TRIPHOSPHATASE DEFICIENCY; Inosine triphosphatase deficiency | Uncertain significance | ClinVar | RCV001363028.1, VCV001054510.1 |