nsv3871940
- 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:6,577
- Description:NC_000005.10:g.(?_13824199)_(13830775_?)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: 162 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 162 SVs from 47 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3871940 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000005.10 | Chr5 | 13,824,199 | 13,830,775 |
| nsv3871940 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 13,824,308 | 13,830,884 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15129858 | deletion | Multiple | Multiple | Ciliary dyskinesia; Primary ciliary dyskinesia; Primary ciliary dyskinesia | Pathogenic | ClinVar | RCV000465478.2, VCV000417569.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15129858 | Submitted genomic | NC_000005.10:g.(?_ 13824199)_(1383077 5_?)del | GRCh38 (hg38) | NC_000005.10 | Chr5 | 13,824,199 | 13,830,775 |
| nssv15129858 | Submitted genomic | NC_000005.9:g.(?_1 3824308)_(13830884 _?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 13,824,308 | 13,830,884 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15129858 | GRCh37: NC_000005.9:g.(?_13824308)_(13830884_?)del, GRCh38: NC_000005.10:g.(?_13824199)_(13830775_?)del | deletion | germline | Ciliary dyskinesia; Primary ciliary dyskinesia; Primary ciliary dyskinesia | Pathogenic | ClinVar | RCV000465478.2, VCV000417569.1 |