nsv7137083
- 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:6,364
- Description:NM_017950.4(CCDC40):c.2236-213_2832+2269del AND Primary ciliary dyskinesia 15
- 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: 171 SVs from 41 studies. See in: genome view
Overlapping variant regions from other studies: 171 SVs from 41 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv7137083 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000017.11 | Chr17 | 80,085,785 | 80,092,148 |
| nsv7137083 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 78,059,584 | 78,065,947 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18830913 | deletion | Multiple | Multiple | CILIARY DYSKINESIA, PRIMARY, 15; CILD15; Ciliary dyskinesia, primary, 15; Primary ciliary dyskinesia | Pathogenic | ClinVar | RCV003233348.1, VCV002505170.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv18830913 | Submitted genomic | NC_000017.11:g.800 85785_80092148del | GRCh38 (hg38) | NC_000017.11 | Chr17 | 80,085,785 | 80,092,148 |
| nssv18830913 | Submitted genomic | NC_000017.10:g.780 59584_78065947del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 78,059,584 | 78,065,947 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18830913 | GRCh37: NC_000017.10:g.78059584_78065947del, GRCh38: NC_000017.11:g.80085785_80092148del | deletion | unknown | CILIARY DYSKINESIA, PRIMARY, 15; CILD15; Ciliary dyskinesia, primary, 15; Primary ciliary dyskinesia | Pathogenic | ClinVar | RCV003233348.1, VCV002505170.1 |