nsv4451120
- 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:615,920
- Description:NC_000014.8:g.(?_74111723)_(74727642_?)dup AND Primary ciliary dyskinesia 16
- 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: 2250 SVs from 88 studies. See in: genome view
Overlapping variant regions from other studies: 2250 SVs from 88 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv4451120 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000014.9 | Chr14 | 73,645,020 | 74,260,939 |
| nsv4451120 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 74,111,723 | 74,727,642 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15774036 | duplication | Multiple | Multiple | CILIARY DYSKINESIA, PRIMARY, 16; CILD16; Ciliary dyskinesia, primary, 16; Primary ciliary dyskinesia | Uncertain significance | ClinVar | RCV000812680.4, VCV000656294.5 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15774036 | Submitted genomic | NC_000014.9:g.(?_7 3645020)_(74260939 _?)dup | GRCh38 (hg38) | NC_000014.9 | Chr14 | 73,645,020 | 74,260,939 |
| nssv15774036 | Submitted genomic | NC_000014.8:g.(?_7 4111723)_(74727642 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 74,111,723 | 74,727,642 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15774036 | GRCh37: NC_000014.8:g.(?_74111723)_(74727642_?)dup, GRCh38: NC_000014.9:g.(?_73645020)_(74260939_?)dup | duplication | germline | CILIARY DYSKINESIA, PRIMARY, 16; CILD16; Ciliary dyskinesia, primary, 16; Primary ciliary dyskinesia | Uncertain significance | ClinVar | RCV000812680.4, VCV000656294.5 |