nsv7097011
- 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:180
- Description:NC_000004.11:g.(?_980871)_(981050_?)dup AND Mucopolysaccharidosis type 1
- Publication(s):Clarke et al. 2002
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 299 SVs from 40 studies. See in: genome view
Overlapping variant regions from other studies: 299 SVs from 40 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv7097011 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 987,083 | 987,262 |
| nsv7097011 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 980,871 | 981,050 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18787194 | duplication | Multiple | Multiple | Mucopolysaccharidosis Type I; Mucopolysaccharidosis type I | Uncertain significance | ClinVar | RCV003122177.2, VCV002422582.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18787194 | Remapped | Perfect | NC_000004.12:g.(?_ 987083)_(987262_?) dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 987,083 | 987,262 |
| nssv18787194 | Submitted genomic | NC_000004.11:g.(?_ 980871)_(981050_?) dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 980,871 | 981,050 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18787194 | GRCh37: NC_000004.11:g.(?_980871)_(981050_?)dup | duplication | germline | Mucopolysaccharidosis Type I; Mucopolysaccharidosis type I | Uncertain significance | ClinVar | RCV003122177.2, VCV002422582.2 |