nsv3923539
- 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:16,787,779
- Description:NC_000010.10:g.43611191_61663279inv 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: 46599 SVs from 140 studies. See in: genome view
Overlapping variant regions from other studies: 45807 SVs from 140 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3923539 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 43,115,743 | 59,903,521 |
| nsv3923539 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 43,611,191 | 61,663,279 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15151598 | inversion | Multiple | Multiple | See cases | Likely pathogenic | ClinVar | RCV000585841.1, VCV000495230.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15151598 | Remapped | Pass | NC_000010.11:g.431 15743_59903521inv | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 43,115,743 | 59,903,521 |
| nssv15151598 | Submitted genomic | NC_000010.10:g.436 11191_61663279inv | GRCh37 (hg19) | NC_000010.10 | Chr10 | 43,611,191 | 61,663,279 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15151598 | GRCh37: NC_000010.10:g.43611191_61663279inv | inversion | somatic | See cases | Likely pathogenic | ClinVar | RCV000585841.1, VCV000495230.1 |