nsv4682824
- 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:6,757
- Description:NC_000001.11:g.(?_2405756)_(2412512_?)del AND Peroxisome biogenesis disorder, complementation group 7
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 408 SVs from 35 studies. See in: genome view
Overlapping variant regions from other studies: 408 SVs from 35 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 |
---|---|---|---|---|---|---|---|---|---|
nsv4682824 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 2,405,756 | 2,412,512 |
nsv4682824 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 2,337,195 | 2,343,951 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
---|---|---|---|---|---|---|---|
nssv16211886 | deletion | Multiple | Multiple | PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER); PBD6A; Peroxisome biogenesis disorder, complementation group 7 | Pathogenic | ClinVar | RCV001031439.1, VCV000830835.1 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16211886 | Remapped | Perfect | NC_000001.11:g.(?_ 2405756)_(2412512_ ?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 2,405,756 | 2,412,512 |
nssv16211886 | Submitted genomic | NC_000001.10:g.(?_ 2337195)_(2343951_ ?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 2,337,195 | 2,343,951 |
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 |
---|---|---|---|---|---|---|---|
nssv16211886 | GRCh37: NC_000001.10:g.(?_2337195)_(2343951_?)del | deletion | germline | PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER); PBD6A; Peroxisome biogenesis disorder, complementation group 7 | Pathogenic | ClinVar | RCV001031439.1, VCV000830835.1 |