nsv4674572
- 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:16,797,981
- Description:Single allele AND multiple conditions
- Publication(s):Mintz et al. 2021, Turro et al. 2020
- ClinVar: RCV001003892.1
- ClinVar: VCV000812956.1
- HP: 0000486
- HP: 0001508
- HP: 0001744
- HP: 0001873
- HP: 0001903
- HP: 0004322
- HP: 0008070
- HP: 0012758
- MONDO: 0002049
- MONDO: 0002280
- MONDO: 0003432
- MeSH: D013921
- MedGen: C0002871
- MedGen: C0038002
- MedGen: C0038379
- MedGen: C0040034
- MedGen: C0349588
- MedGen: C2315100
- MedGen: C4022738
- MedGen: C5551005
- PubMed: 32581362
- PubMed: 33514815
- Overlapping Genes
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 41167 SVs from 122 studies. See in: genome view
Overlapping variant regions from other studies: 41184 SVs from 123 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4674572 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 114,562,591 | 131,360,571 |
| nsv4674572 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 114,433,313 | 131,230,466 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16207657 | deletion | Multiple | Multiple | Anemia; Anemia; Failure to thrive; Failure to thrive; Neurodevelopmental delay; Neurodevelopmental delay; Short stature; Short stature; Sparse hair; Sparse hair; Splenomegaly; Splenomegaly; Strabismus; Strabismus; Thrombocytopenia; Thrombocytopenia; Thrombocytopenia | Likely pathogenic | ClinVar | RCV001003892.1, VCV000812956.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16207657 | Remapped | Good | NC_000011.10:g.114 562591_131360571de l | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 114,562,591 | 131,360,571 |
| nssv16207657 | Submitted genomic | NC_000011.9:g.1144 33313_131230466del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 114,433,313 | 131,230,466 |
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 |
|---|---|---|---|---|---|---|---|
| nssv16207657 | GRCh37: NC_000011.9:g.114433313_131230466del | deletion | unknown | Anemia; Anemia; Failure to thrive; Failure to thrive; Neurodevelopmental delay; Neurodevelopmental delay; Short stature; Short stature; Sparse hair; Sparse hair; Splenomegaly; Splenomegaly; Strabismus; Strabismus; Thrombocytopenia; Thrombocytopenia; Thrombocytopenia | Likely pathogenic | ClinVar | RCV001003892.1, VCV000812956.1 |