nsv7099025
- 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_130810.4(DNAAF4):c.784_893del (p.Trp262fs) AND Primary ciliary dyskinesia 25
- 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 | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv7099025 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000015.10 | Chr15 | 55,439,472 | 55,439,581 |
| nsv7099025 | 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 |
|---|---|---|---|---|---|---|---|
| nssv18792877 | deletion | Multiple | Multiple | CILIARY DYSKINESIA, PRIMARY, 25; CILD25; Primary ciliary dyskinesia; Primary ciliary dyskinesia 25 | Pathogenic | ClinVar | RCV003225692.1, VCV002500780.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv18792877 | Submitted genomic | NC_000015.10:g.554 39472_55439581del | GRCh38 (hg38) | NC_000015.10 | Chr15 | 55,439,472 | 55,439,581 |
| nssv18792877 | Submitted genomic | NC_000015.9:g.5573 1670_55731779del | 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 |
|---|---|---|---|---|---|---|---|
| nssv18792877 | GRCh37: NC_000015.9:g.55731670_55731779del, GRCh38: NC_000015.10:g.55439472_55439581del | deletion | biparental | CILIARY DYSKINESIA, PRIMARY, 25; CILD25; Primary ciliary dyskinesia; Primary ciliary dyskinesia 25 | Pathogenic | ClinVar | RCV003225692.1, VCV002500780.1 |