nsv4682489
- 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:880,952
- Description:NC_000012.11:g.(?_6438458)_(7362839_?)dup AND Peroxisome biogenesis disorder 2B
- Publication(s):Steinberg et al. 2003
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 3101 SVs from 91 studies. See in: genome view
Overlapping variant regions from other studies: 3067 SVs from 91 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4682489 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 6,329,292 | 7,210,243 |
| nsv4682489 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 6,438,458 | 7,362,839 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16213188 | duplication | Multiple | Multiple | Neonatal adrenoleucodystrophy; Neonatal adrenoleukodystrophy; PEROXISOME BIOGENESIS DISORDER 2B; PBD2B; Zellweger Spectrum Disorder | Uncertain significance | ClinVar | RCV001031288.1, VCV000830671.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16213188 | Remapped | Good | NC_000012.12:g.(?_ 6329292)_(7210243_ ?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 6,329,292 | 7,210,243 |
| nssv16213188 | Submitted genomic | NC_000012.11:g.(?_ 6438458)_(7362839_ ?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 6,438,458 | 7,362,839 |
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 |
|---|---|---|---|---|---|---|---|
| nssv16213188 | GRCh37: NC_000012.11:g.(?_6438458)_(7362839_?)dup | duplication | germline | Neonatal adrenoleucodystrophy; Neonatal adrenoleukodystrophy; PEROXISOME BIOGENESIS DISORDER 2B; PBD2B; Zellweger Spectrum Disorder | Uncertain significance | ClinVar | RCV001031288.1, VCV000830671.1 |