nsv4436827
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:inversion
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:2,055,943
- Description:inv(22)(q12.2q12.2) AND Anaplastic ependymoma
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 5770 SVs from 98 studies. See in: genome view
Overlapping variant regions from other studies: 5771 SVs from 98 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4436827 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 29,288,727 | 31,344,669 |
| nsv4436827 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 29,684,716 | 31,740,655 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15754968 | inversion | Multiple | Multiple | Anaplastic ependymoma | Likely pathogenic | ClinVar | RCV000785873.1, VCV000634999.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15754968 | Remapped | Perfect | NC_000022.11:g.292 88727_31344669inv | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 29,288,727 | 31,344,669 |
| nssv15754968 | Submitted genomic | NC_000022.10:g.296 84716_31740655inv | GRCh37 (hg19) | NC_000022.10 | Chr22 | 29,684,716 | 31,740,655 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15754968 | GRCh37: NC_000022.10:g.29684716_31740655inv | inversion | somatic | Anaplastic ependymoma | Likely pathogenic | ClinVar | RCV000785873.1, VCV000634999.1 |