nsv5673427
- 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:1,253,701
- Description:NC_000022.10:g.(?_29083885)_(30337586_?)del AND Neurofibromatosis, type 2
- Publication(s):ACMG Board of Directors et al. 2014, Evans et al. 1998, Green et al. 2013, Kalia et al. 2016, Miller et al. 2021, Miller et al. 2022, Radtke et al. 2020
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 4001 SVs from 97 studies. See in: genome view
Overlapping variant regions from other studies: 4002 SVs from 97 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv5673427 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 28,687,897 | 29,941,597 |
| nsv5673427 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 29,083,885 | 30,337,586 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17171862 | deletion | Multiple | Multiple | NEUROFIBROMATOSIS, TYPE II; NF2; Neurofibromatosis 2; Neurofibromatosis type 2; Neurofibromatosis, type 2 | Pathogenic | ClinVar | RCV001390044.1, VCV001076222.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17171862 | Remapped | Perfect | NC_000022.11:g.(?_ 28687897)_(2994159 7_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 28,687,897 | 29,941,597 |
| nssv17171862 | Submitted genomic | NC_000022.10:g.(?_ 29083885)_(3033758 6_?)del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 29,083,885 | 30,337,586 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17171862 | GRCh37: NC_000022.10:g.(?_29083885)_(30337586_?)del | deletion | germline | NEUROFIBROMATOSIS, TYPE II; NF2; Neurofibromatosis 2; Neurofibromatosis type 2; Neurofibromatosis, type 2 | Pathogenic | ClinVar | RCV001390044.1, VCV001076222.1 |