nsv7095919
- 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:1,053,881
- Description:NC_000021.8:g.(?_36079578)_(37133458_?)del AND Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
- Publication(s):Deuitch et al. 2021
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 2645 SVs from 87 studies. See in: genome view
Overlapping variant regions from other studies: 2647 SVs from 87 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv7095919 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | 34,707,280 | 35,761,160 |
| nsv7095919 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000021.8 | Chr21 | 36,079,578 | 37,133,458 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18792017 | deletion | Multiple | Multiple | Familial platelet disorder with associated myeloid malignancy; Familial platelet disorder with associated myeloid malignancy; PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY; FPDMM; Platelet Disorder, Familial, with Associated Myeloid Malignancy; RUNX1 Familial Platelet Disorder with Associated Myeloid Malignancies | Pathogenic | ClinVar | RCV003107464.2, VCV002424231.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18792017 | Remapped | Perfect | NC_000021.9:g.(?_3 4707280)_(35761160 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 34,707,280 | 35,761,160 |
| nssv18792017 | Submitted genomic | NC_000021.8:g.(?_3 6079578)_(37133458 _?)del | GRCh37 (hg19) | NC_000021.8 | Chr21 | 36,079,578 | 37,133,458 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18792017 | GRCh37: NC_000021.8:g.(?_36079578)_(37133458_?)del | deletion | germline | Familial platelet disorder with associated myeloid malignancy; Familial platelet disorder with associated myeloid malignancy; PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY; FPDMM; Platelet Disorder, Familial, with Associated Myeloid Malignancy; RUNX1 Familial Platelet Disorder with Associated Myeloid Malignancies | Pathogenic | ClinVar | RCV003107464.2, VCV002424231.2 |