nsv6311531
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:complex substitution
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:2
- Description:
Single allele AND Mucopolysaccharidosis, MPS-IV-B - Publication(s):Regier et al. 2013
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 50 SVs from 12 studies. See in: genome view
Overlapping variant regions from other studies: 50 SVs from 12 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv6311531 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 33,058,553 | 33,058,554 |
nsv6311531 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 33,100,045 | 33,100,046 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
---|---|---|---|---|---|---|---|
nssv17970391 | complex substitution | Multiple | Multiple | GLB1-Related Disorders; MUCOPOLYSACCHARIDOSIS, TYPE IVB; MPS4B; Mucopolysaccharidosis type 4; Mucopolysaccharidosis, MPS-IV-B | Likely pathogenic | ClinVar | RCV001849900.1, VCV001344904.1 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|
nssv17970391 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 33,058,553 | 33,058,554 |
nssv17970391 | Submitted genomic | GRCh37 (hg19) | NC_000003.11 | Chr3 | 33,100,045 | 33,100,046 |
No validation data were submitted for this variant
Clinical Assertions
Variant Call ID | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
---|---|---|---|---|---|---|
nssv17970391 | complex substitution | germline | GLB1-Related Disorders; MUCOPOLYSACCHARIDOSIS, TYPE IVB; MPS4B; Mucopolysaccharidosis type 4; Mucopolysaccharidosis, MPS-IV-B | Likely pathogenic | ClinVar | RCV001849900.1, VCV001344904.1 |