nsv4673962
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:2,899
- Description:NM_000212.3(ITGB3):c.2015-644_2134+2135del AND multiple conditions
- 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: 147 SVs from 20 studies. See in: genome view
Overlapping variant regions from other studies: 147 SVs from 20 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv4673962 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000017.11 | Chr17 | 47,302,077 | 47,304,975 |
| nsv4673962 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 45,379,443 | 45,382,341 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16206486 | deletion | Multiple | Multiple | Increased mean platelet volume; Increased mean platelet volume; Thrombocytopenia; Thrombocytopenia; Thrombocytopenia | Likely pathogenic | ClinVar | RCV001003846.1, VCV000812912.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv16206486 | Submitted genomic | NC_000017.11:g.473 02077_47304975del | GRCh38 (hg38) | NC_000017.11 | Chr17 | 47,302,077 | 47,304,975 |
| nssv16206486 | Submitted genomic | NC_000017.10:g.453 79443_45382341del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 45,379,443 | 45,382,341 |
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 |
|---|---|---|---|---|---|---|---|
| nssv16206486 | GRCh37: NC_000017.10:g.45379443_45382341del, GRCh38: NC_000017.11:g.47302077_47304975del | deletion | unknown | Increased mean platelet volume; Increased mean platelet volume; Thrombocytopenia; Thrombocytopenia; Thrombocytopenia | Likely pathogenic | ClinVar | RCV001003846.1, VCV000812912.1 |