nsv7095836
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:3
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:1,994,318
- Description:
See descriptions for individual calls in download files - Publication(s):Bonne et al. 2004, Gregory et al. 2008, Gregory et al. 2013, Narayanaswami et al. 2014
- ClinVar: RCV003107333.2
- ClinVar: RCV003122556.2
- ClinVar: RCV003122557.2
- ClinVar: VCV002424101.2
- GeneReviews: NBK1436
- GeneReviews: NBK1675
- MONDO: 0014620
- MONDO: 0016830
- MONDO: 0024457
- MedGen: C0270724
- MedGen: C0410189
- MedGen: C4225341
- OMIM: 256600
- OMIM: 603604.0001
- OMIM: 603604.0003
- OMIM: 603604.0004
- OMIM: 603604.0006
- OMIM: 603604.0007
- OMIM: 603604.0014
- OMIM: 603604.0015
- OMIM: 616398
- OMIM: PS310300
- Orphanet: 35069
- PubMed: 20301609
- PubMed: 20301718
- PubMed: 23447832
- PubMed: 25313375
- Overlapping Genes
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 5902 SVs from 104 studies. See in: genome view
Overlapping variant regions from other studies: 5904 SVs from 104 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv7095836 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 36,758,311 | 38,752,628 |
| nsv7095836 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 37,154,355 | 39,148,633 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18787558 | deletion | Multiple | Multiple | Infantile neuroaxonal dystrophy; Infantile neuroaxonal dystrophy; NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A; NBIA2A; PLA2G6-Associated Neurodegeneration; See individual phenotypes in OMIM allelic variants | Pathogenic | ClinVar | RCV003122556.2, VCV002424101.2 |
| nssv18787559 | deletion | Multiple | Multiple | Emery-Dreifuss Muscular Dystrophy; Emery-Dreifuss muscular dystrophy; Emery-Dreifuss muscular dystrophy | Uncertain significance | ClinVar | RCV003122557.2, VCV002424101.2 |
| nssv18791893 | deletion | Multiple | Multiple | DYSTONIA 26, MYOCLONIC; DYT26; Myoclonic dystonia 26 | Uncertain significance | ClinVar | RCV003107333.2, VCV002424101.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18787558 | Remapped | Good | NC_000022.11:g.(?_ 36758311)_(3875262 8_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 36,758,311 | 38,752,628 |
| nssv18787559 | Remapped | Good | NC_000022.11:g.(?_ 36758311)_(3875262 8_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 36,758,311 | 38,752,628 |
| nssv18791893 | Remapped | Good | NC_000022.11:g.(?_ 36758311)_(3875262 8_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 36,758,311 | 38,752,628 |
| nssv18787558 | Submitted genomic | NC_000022.10:g.(?_ 37154355)_(3914863 3_?)del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 37,154,355 | 39,148,633 | ||
| nssv18787559 | Submitted genomic | NC_000022.10:g.(?_ 37154355)_(3914863 3_?)del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 37,154,355 | 39,148,633 | ||
| nssv18791893 | Submitted genomic | NC_000022.10:g.(?_ 37154355)_(3914863 3_?)del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 37,154,355 | 39,148,633 |
No validation data were submitted for this variant
Clinical Assertions There exist variant calls with the same type and copy number with different clinical interpretation.
| Variant Call ID | HGVS | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18787558 | GRCh37: NC_000022.10:g.(?_37154355)_(39148633_?)del | deletion | germline | Infantile neuroaxonal dystrophy; Infantile neuroaxonal dystrophy; NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A; NBIA2A; PLA2G6-Associated Neurodegeneration; See individual phenotypes in OMIM allelic variants | Pathogenic | ClinVar | RCV003122556.2, VCV002424101.2 |
| nssv18787559 | GRCh37: NC_000022.10:g.(?_37154355)_(39148633_?)del | deletion | germline | Emery-Dreifuss Muscular Dystrophy; Emery-Dreifuss muscular dystrophy; Emery-Dreifuss muscular dystrophy | Uncertain significance | ClinVar | RCV003122557.2, VCV002424101.2 |
| nssv18791893 | GRCh37: NC_000022.10:g.(?_37154355)_(39148633_?)del | deletion | germline | DYSTONIA 26, MYOCLONIC; DYT26; Myoclonic dystonia 26 | Uncertain significance | ClinVar | RCV003107333.2, VCV002424101.2 |