nsv4450833
- 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:1,179,488
- Description:NC_000023.10:g.(?_152954020)_(154096327_?)del AND Adrenoleukodystrophy
- Publication(s):Krasemann et al. 2011, Raymond et al. 1999
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 1978 SVs from 77 studies. See in: genome view
Overlapping variant regions from other studies: 1977 SVs from 77 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4450833 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 153,688,565 | 154,868,052 |
| nsv4450833 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 152,954,020 | 154,096,327 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15774068 | deletion | Multiple | Multiple | ADRENOLEUKODYSTROPHY; ALD; Adrenoleukodystrophy; X-Linked Adrenoleukodystrophy | Pathogenic | ClinVar | RCV000815921.2, VCV000658992.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15774068 | Remapped | Good | NC_000023.11:g.(?_ 153688565)_(154868 052_?)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 153,688,565 | 154,868,052 |
| nssv15774068 | Submitted genomic | NC_000023.10:g.(?_ 152954020)_(154096 327_?)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 152,954,020 | 154,096,327 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15774068 | GRCh37: NC_000023.10:g.(?_152954020)_(154096327_?)del | deletion | germline | ADRENOLEUKODYSTROPHY; ALD; Adrenoleukodystrophy; X-Linked Adrenoleukodystrophy | Pathogenic | ClinVar | RCV000815921.2, VCV000658992.2 |