nsv5673589
- 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:23,361
- Description:NC_000005.9:g.(?_78111899)_(78135259_?)del AND Mucopolysaccharidosis type 6
- Publication(s):Wood et al. 2012
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 159 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 159 SVs from 47 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv5673589 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 78,816,076 | 78,839,436 |
| nsv5673589 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 78,111,899 | 78,135,259 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17172930 | deletion | Multiple | Multiple | MUCOPOLYSACCHARIDOSIS, TYPE VI; MPS6; Mucopolysaccharidosis type 6; Mucopolysaccharidosis type VI | Pathogenic | ClinVar | RCV001386243.4, VCV001073284.5 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17172930 | Remapped | Perfect | NC_000005.10:g.(?_ 78816076)_(7883943 6_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 78,816,076 | 78,839,436 |
| nssv17172930 | Submitted genomic | NC_000005.9:g.(?_7 8111899)_(78135259 _?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 78,111,899 | 78,135,259 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17172930 | GRCh37: NC_000005.9:g.(?_78111899)_(78135259_?)del | deletion | germline | MUCOPOLYSACCHARIDOSIS, TYPE VI; MPS6; Mucopolysaccharidosis type 6; Mucopolysaccharidosis type VI | Pathogenic | ClinVar | RCV001386243.4, VCV001073284.5 |