nsv3887587
- 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:110
- Description:NM_130810.3(DNAAF4):c.784-?_893+?del AND Ciliary dyskinesia
- Publication(s):Zariwala et al. 2007
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 127 SVs from 27 studies. See in: genome view
Overlapping variant regions from other studies: 127 SVs from 27 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3887587 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000015.10 | Chr15 | 55,439,472 | 55,439,581 |
| nsv3887587 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 55,731,670 | 55,731,779 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15124062 | deletion | Multiple | Multiple | Ciliary dyskinesia; Primary ciliary dyskinesia; Primary ciliary dyskinesia | Pathogenic | ClinVar | RCV000239899.3, VCV000254083.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15124062 | Submitted genomic | NC_000015.10:g.(?_ 55439472)_(5543958 1_?)del | GRCh38 (hg38) | NC_000015.10 | Chr15 | 55,439,472 | 55,439,581 |
| nssv15124062 | Submitted genomic | NC_000015.9:g.(?_5 5731670)_(55731779 _?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 55,731,670 | 55,731,779 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15124062 | GRCh37: NC_000015.9:g.(?_55731670)_(55731779_?)del, GRCh38: NC_000015.10:g.(?_55439472)_(55439581_?)del | deletion | germline | Ciliary dyskinesia; Primary ciliary dyskinesia; Primary ciliary dyskinesia | Pathogenic | ClinVar | RCV000239899.3, VCV000254083.1 |