nsv3887660
- 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:527
- Description:NC_000017.11:g.(?_80058474)_(80059000_?)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: 112 SVs from 19 studies. See in: genome view
Overlapping variant regions from other studies: 112 SVs from 19 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3887660 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000017.11 | Chr17 | 80,058,474 | 80,059,000 |
| nsv3887660 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 78,032,273 | 78,032,799 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15130027 | deletion | Multiple | Multiple | Ciliary dyskinesia; Primary ciliary dyskinesia; Primary ciliary dyskinesia | Pathogenic | ClinVar | RCV000552617.4, VCV000454504.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15130027 | Submitted genomic | NC_000017.11:g.(?_ 80058474)_(8005900 0_?)del | GRCh38 (hg38) | NC_000017.11 | Chr17 | 80,058,474 | 80,059,000 |
| nssv15130027 | Submitted genomic | NC_000017.10:g.(?_ 78032273)_(7803279 9_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 78,032,273 | 78,032,799 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15130027 | GRCh37: NC_000017.10:g.(?_78032273)_(78032799_?)del, GRCh38: NC_000017.11:g.(?_80058474)_(80059000_?)del | deletion | germline | Ciliary dyskinesia; Primary ciliary dyskinesia; Primary ciliary dyskinesia | Pathogenic | ClinVar | RCV000552617.4, VCV000454504.3 |