nsv7098667
- 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:3,294
- Description:NC_000023.10:g.(?_48932462)_(48935755_?)del AND Neurodegeneration with brain iron accumulation 5
- Publication(s):Gregory et al. 2013, Gregory et al. 2017
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 127 SVs from 26 studies. See in: genome view
Overlapping variant regions from other studies: 126 SVs from 25 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv7098667 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 49,074,803 | 49,078,096 |
| nsv7098667 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 48,932,462 | 48,935,755 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18788654 | deletion | Multiple | Multiple | Beta-Propeller Protein-Associated Neurodegeneration; Beta-propeller protein-associated neurodegeneration; NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5; NBIA5; Neurodegeneration with brain iron accumulation 5 | Pathogenic | ClinVar | RCV003109608.2, VCV002425684.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18788654 | Remapped | Perfect | NC_000023.11:g.(?_ 49074803)_(4907809 6_?)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 49,074,803 | 49,078,096 |
| nssv18788654 | Submitted genomic | NC_000023.10:g.(?_ 48932462)_(4893575 5_?)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 48,932,462 | 48,935,755 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18788654 | GRCh37: NC_000023.10:g.(?_48932462)_(48935755_?)del | deletion | germline | Beta-Propeller Protein-Associated Neurodegeneration; Beta-propeller protein-associated neurodegeneration; NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5; NBIA5; Neurodegeneration with brain iron accumulation 5 | Pathogenic | ClinVar | RCV003109608.2, VCV002425684.2 |