nsv5381814
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:inversion
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:173
- Description:NM_005219.5(DIAPH1):c.3575-50_3661+36inv AND Macrothrombocytopenia
- Publication(s):Downes et al. 2019
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 60 SVs from 16 studies. See in: genome view
Overlapping variant regions from other studies: 58 SVs from 16 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv5381814 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000005.10 | Chr5 | 141,524,107 | 141,524,279 |
| nsv5381814 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 140,903,674 | 140,903,846 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15776876 | inversion | Multiple | Multiple | Macrothrombocytopenia; Macrothrombocytopenia | Likely pathogenic | ClinVar | RCV000852260.1, VCV000627499.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv15776876 | Submitted genomic | NC_000005.10:g.141 524107_141524279in v173 | GRCh38 (hg38) | NC_000005.10 | Chr5 | 141,524,107 | 141,524,279 |
| nssv15776876 | Submitted genomic | NC_000005.9:g.1409 03674_140903846inv 173 | GRCh37 (hg19) | NC_000005.9 | Chr5 | 140,903,674 | 140,903,846 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15776876 | GRCh37: NC_000005.9:g.140903674_140903846inv173, GRCh38: NC_000005.10:g.141524107_141524279inv173 | inversion | unknown | Macrothrombocytopenia; Macrothrombocytopenia | Likely pathogenic | ClinVar | RCV000852260.1, VCV000627499.1 |