nsv5381665
- 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:221
- Description:NC_000023.10:g.(?_148579628)_(148579848_?)dup AND Mucopolysaccharidosis, MPS-II
- Publication(s):Beck et al. 2011, Giugliani et al. 2014, Scarpa et al. 2007
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 80 SVs from 21 studies. See in: genome view
Overlapping variant regions from other studies: 76 SVs from 19 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv5381665 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 149,498,097 | 149,498,317 |
| nsv5381665 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 148,579,628 | 148,579,848 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16866833 | duplication | Multiple | Multiple | MUCOPOLYSACCHARIDOSIS, TYPE II; MPS2; Mucopolysaccharidosis Type II; Mucopolysaccharidosis type 2; Mucopolysaccharidosis, MPS-II | Uncertain significance | ClinVar | RCV001322169.2, VCV001022282.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16866833 | Remapped | Perfect | NC_000023.11:g.(?_ 149498097)_(149498 317_?)dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 149,498,097 | 149,498,317 |
| nssv16866833 | Submitted genomic | NC_000023.10:g.(?_ 148579628)_(148579 848_?)dup | GRCh37 (hg19) | NC_000023.10 | ChrX | 148,579,628 | 148,579,848 |
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 |
|---|---|---|---|---|---|---|---|
| nssv16866833 | GRCh37: NC_000023.10:g.(?_148579628)_(148579848_?)dup | duplication | germline | MUCOPOLYSACCHARIDOSIS, TYPE II; MPS2; Mucopolysaccharidosis Type II; Mucopolysaccharidosis type 2; Mucopolysaccharidosis, MPS-II | Uncertain significance | ClinVar | RCV001322169.2, VCV001022282.2 |