nsv5381669
- 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:84,186
- Description:NC_000023.10:g.(?_38156517)_(38240702_?)dup 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: 235 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 235 SVs from 31 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv5381669 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 38,297,264 | 38,381,449 |
| nsv5381669 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 38,156,517 | 38,240,702 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16866838 | duplication | Multiple | Multiple | Ciliary dyskinesia; Primary ciliary dyskinesia; Primary ciliary dyskinesia | Uncertain significance | ClinVar | RCV001322289.5, VCV001022391.12 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16866838 | Remapped | Perfect | NC_000023.11:g.(?_ 38297264)_(3838144 9_?)dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 38,297,264 | 38,381,449 |
| nssv16866838 | Submitted genomic | NC_000023.10:g.(?_ 38156517)_(3824070 2_?)dup | GRCh37 (hg19) | NC_000023.10 | ChrX | 38,156,517 | 38,240,702 |
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 |
|---|---|---|---|---|---|---|---|
| nssv16866838 | GRCh37: NC_000023.10:g.(?_38156517)_(38240702_?)dup | duplication | germline | Ciliary dyskinesia; Primary ciliary dyskinesia; Primary ciliary dyskinesia | Uncertain significance | ClinVar | RCV001322289.5, VCV001022391.12 |