nsv3883685
- 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:5,765
- Description:NC_000017.11:g.(?_74299698)_(74305462_?)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: 279 SVs from 61 studies. See in: genome view
Overlapping variant regions from other studies: 279 SVs from 61 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3883685 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000017.11 | Chr17 | 74,299,698 | 74,305,462 |
| nsv3883685 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 72,295,837 | 72,301,601 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15144464 | deletion | Multiple | Multiple | Ciliary dyskinesia; Primary ciliary dyskinesia; Primary ciliary dyskinesia | Pathogenic | ClinVar | RCV000708373.2, VCV000584187.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15144464 | Submitted genomic | NC_000017.11:g.(?_ 74299698)_(7430546 2_?)del | GRCh38 (hg38) | NC_000017.11 | Chr17 | 74,299,698 | 74,305,462 |
| nssv15144464 | Submitted genomic | NC_000017.10:g.(?_ 72295837)_(7230160 1_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 72,295,837 | 72,301,601 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15144464 | GRCh37: NC_000017.10:g.(?_72295837)_(72301601_?)del, GRCh38: NC_000017.11:g.(?_74299698)_(74305462_?)del | deletion | germline | Ciliary dyskinesia; Primary ciliary dyskinesia; Primary ciliary dyskinesia | Pathogenic | ClinVar | RCV000708373.2, VCV000584187.1 |