nsv7097202
- 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:674,321
- Description:NC_000003.11:g.(?_49866536)_(50540854_?)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: 1750 SVs from 87 studies. See in: genome view
Overlapping variant regions from other studies: 1750 SVs from 87 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv7097202 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 49,829,103 | 50,503,423 |
| nsv7097202 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 49,866,536 | 50,540,854 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18791340 | duplication | Multiple | Multiple | Ciliary dyskinesia; Primary ciliary dyskinesia; Primary ciliary dyskinesia | Uncertain significance | ClinVar | RCV003119656.2, VCV002426218.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18791340 | Remapped | Perfect | NC_000003.12:g.(?_ 49829103)_(5050342 3_?)dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 49,829,103 | 50,503,423 |
| nssv18791340 | Submitted genomic | NC_000003.11:g.(?_ 49866536)_(5054085 4_?)dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 49,866,536 | 50,540,854 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18791340 | GRCh37: NC_000003.11:g.(?_49866536)_(50540854_?)dup | duplication | germline | Ciliary dyskinesia; Primary ciliary dyskinesia; Primary ciliary dyskinesia | Uncertain significance | ClinVar | RCV003119656.2, VCV002426218.1 |