nsv7093334
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:8,794
- Description:
NM_000053.4(ATP7B):c.436_1708-958del AND Wilson disease - Publication(s):Albanese et al. 2011, Kalia et al. 2016, Miller et al. 2021, Miller et al. 2022, Roberts et al. 2008, Weiss 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: 123 SVs from 29 studies. See in: genome view
Overlapping variant regions from other studies: 123 SVs from 29 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv7093334 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000013.11 | Chr13 | 51,965,991 | 51,974,784 |
| nsv7093334 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000013.10 | Chr13 | 52,540,127 | 52,548,920 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18786317 | deletion | Multiple | Multiple | WILSON DISEASE; Wilson Disease; Wilson disease; Wilson disease | Pathogenic | ClinVar | RCV002510282.1, VCV001878229.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv18786317 | Submitted genomic | NC_000013.11:g.519 65991_51974784del | GRCh38 (hg38) | NC_000013.11 | Chr13 | 51,965,991 | 51,974,784 |
| nssv18786317 | Submitted genomic | NC_000013.10:g.525 40127_52548920del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 52,540,127 | 52,548,920 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18786317 | GRCh37: NC_000013.10:g.52540127_52548920del, GRCh38: NC_000013.11:g.51965991_51974784del | deletion | germline | WILSON DISEASE; Wilson Disease; Wilson disease; Wilson disease | Pathogenic | ClinVar | RCV002510282.1, VCV001878229.1 |