nsv6137658
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:complex substitution
- Method Type:Multiple
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:11,236
- Description:
Single allele AND Mucopolysaccharidosis, MPS-IV-A - 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: 428 SVs from 62 studies. See in: genome view
Overlapping variant regions from other studies: 428 SVs from 62 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6137658 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000016.10 | Chr16 | 88,825,006 | 88,836,241 | ||
| nsv6137658 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000016.9 | Chr16 | 88,891,414 | 88,902,649 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17683413 | complex substitution | Multiple | Multiple | MUCOPOLYSACCHARIDOSIS, TYPE IVA; MPS4A; Mucopolysaccharidosis Type IVA; Mucopolysaccharidosis type 4; Mucopolysaccharidosis type 4A; Mucopolysaccharidosis, MPS-IV-A | Uncertain significance | ClinVar | RCV001578513.3, VCV001048408.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|
| nssv17683413 | Submitted genomic | GRCh38 (hg38) | NC_000016.10 | Chr16 | 88,825,006 | 88,836,241 | ||
| nssv17683413 | Remapped | Perfect | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 88,891,414 | 88,902,649 |
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 |
|---|---|---|---|---|---|---|
| nssv17683413 | complex substitution | germline | MUCOPOLYSACCHARIDOSIS, TYPE IVA; MPS4A; Mucopolysaccharidosis Type IVA; Mucopolysaccharidosis type 4; Mucopolysaccharidosis type 4A; Mucopolysaccharidosis, MPS-IV-A | Uncertain significance | ClinVar | RCV001578513.3, VCV001048408.3 |