nsv5673891
- 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:31,454
- Description:NC_000009.11:g.(?_34489311)_(34520764_?)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: 123 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 129 SVs from 30 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5673891 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 34,489,313 | 34,520,766 |
| nsv5673891 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 34,489,311 | 34,520,764 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17172361 | deletion | Multiple | Multiple | Ciliary dyskinesia; Primary ciliary dyskinesia; Primary ciliary dyskinesia | Likely pathogenic | ClinVar | RCV001379945.7, VCV001068409.12 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17172361 | Remapped | Perfect | NC_000009.12:g.(?_ 34489313)_(3452076 6_?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 34,489,313 | 34,520,766 |
| nssv17172361 | Submitted genomic | NC_000009.11:g.(?_ 34489311)_(3452076 4_?)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 34,489,311 | 34,520,764 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17172361 | GRCh37: NC_000009.11:g.(?_34489311)_(34520764_?)del | deletion | germline | Ciliary dyskinesia; Primary ciliary dyskinesia; Primary ciliary dyskinesia | Likely pathogenic | ClinVar | RCV001379945.7, VCV001068409.12 |