nsv4716478
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:3,549
- Description:
See descriptions for individual calls in download files - Publication(s):Tarkar et al. 2013, 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: 136 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 136 SVs from 30 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv4716478 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000015.10 | Chr15 | 55,437,070 | 55,440,618 |
| nsv4716478 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 55,729,268 | 55,732,816 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16252267 | deletion | Multiple | Multiple | Ciliary dyskinesia; Primary ciliary dyskinesia; Primary ciliary dyskinesia | Pathogenic | ClinVar | RCV001255275.3, VCV000916125.4 |
| nssv17976800 | deletion | Multiple | Multiple | CILIARY DYSKINESIA, PRIMARY, 25; CILD25; Primary ciliary dyskinesia; Primary ciliary dyskinesia 25 | Pathogenic | ClinVar | RCV002282466.2, VCV000916125.4 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv16252267 | Submitted genomic | NC_000015.10:g.554 37070_55440618del | GRCh38 (hg38) | NC_000015.10 | Chr15 | 55,437,070 | 55,440,618 |
| nssv17976800 | Submitted genomic | NC_000015.10:g.554 37070_55440618del | GRCh38 (hg38) | NC_000015.10 | Chr15 | 55,437,070 | 55,440,618 |
| nssv16252267 | Submitted genomic | NC_000015.9:g.5572 9268_55732816del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 55,729,268 | 55,732,816 |
| nssv17976800 | Submitted genomic | NC_000015.9:g.5572 9268_55732816del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 55,729,268 | 55,732,816 |
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 |
|---|---|---|---|---|---|---|---|
| nssv16252267 | GRCh37: NC_000015.9:g.55729268_55732816del, GRCh38: NC_000015.10:g.55437070_55440618del | deletion | see ClinVar for details | Ciliary dyskinesia; Primary ciliary dyskinesia; Primary ciliary dyskinesia | Pathogenic | ClinVar | RCV001255275.3, VCV000916125.4 |
| nssv17976800 | GRCh37: NC_000015.9:g.55729268_55732816del, GRCh38: NC_000015.10:g.55437070_55440618del | deletion | germline | CILIARY DYSKINESIA, PRIMARY, 25; CILD25; Primary ciliary dyskinesia; Primary ciliary dyskinesia 25 | Pathogenic | ClinVar | RCV002282466.2, VCV000916125.4 |