nsv3909898
- 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:2,715,577
- Description:
Single allele AND Pediatric metastatic thyroid tumour
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 7307 SVs from 110 studies. See in: genome view
Overlapping variant regions from other studies: 7241 SVs from 111 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3909898 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 154,158,509 | 156,874,085 |
| nsv3909898 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 154,130,985 | 156,843,877 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15153059 | inversion | Multiple | Multiple | See cases | Likely pathogenic | ClinVar | RCV000585807.1, VCV000495229.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15153059 | Remapped | Good | NC_000001.11:g.154 158509_156874085in v | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 154,158,509 | 156,874,085 |
| nssv15153059 | Submitted genomic | NC_000001.10:g.154 130985_156843877in v | GRCh37 (hg19) | NC_000001.10 | Chr1 | 154,130,985 | 156,843,877 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15153059 | GRCh37: NC_000001.10:g.154130985_156843877inv | inversion | somatic | See cases | Likely pathogenic | ClinVar | RCV000585807.1, VCV000495229.1 |