nsv4673961
- 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:10,717,540
- Description:
Single allele AND Paris-Trousseau thrombocytopenia - Publication(s):Turro et al. 2020
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 29112 SVs from 124 studies. See in: genome view
Overlapping variant regions from other studies: 29115 SVs from 124 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4673961 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 124,357,044 | 135,074,583 |
| nsv4673961 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 124,226,940 | 134,944,477 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16207649 | deletion | Multiple | Multiple | Paris-Trousseau thrombocytopenia; Paris-Trousseau thrombocytopenia; THROMBOCYTOPENIA, PARIS-TROUSSEAU TYPE; TCPT | Pathogenic | ClinVar | RCV001003843.1, VCV000812909.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16207649 | Remapped | Perfect | NC_000011.10:g.124 357044_135074583de l | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 124,357,044 | 135,074,583 |
| nssv16207649 | Submitted genomic | NC_000011.9:g.1242 26940_134944477del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 124,226,940 | 134,944,477 |
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 |
|---|---|---|---|---|---|---|---|
| nssv16207649 | GRCh37: NC_000011.9:g.124226940_134944477del | deletion | unknown | Paris-Trousseau thrombocytopenia; Paris-Trousseau thrombocytopenia; THROMBOCYTOPENIA, PARIS-TROUSSEAU TYPE; TCPT | Pathogenic | ClinVar | RCV001003843.1, VCV000812909.1 |