nsv6312179
- 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:44,253
- Description:NC_000005.9:g.(?_13900305)_(13944557_?)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: 245 SVs from 46 studies. See in: genome view
Overlapping variant regions from other studies: 245 SVs from 46 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 |
---|---|---|---|---|---|---|---|---|---|
nsv6312179 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 13,900,196 | 13,944,448 |
nsv6312179 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 13,900,305 | 13,944,557 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
---|---|---|---|---|---|---|---|
nssv17975198 | deletion | Multiple | Multiple | Ciliary dyskinesia; Primary ciliary dyskinesia; Primary ciliary dyskinesia | Pathogenic | ClinVar | RCV001940077.4, VCV001410400.9 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17975198 | Remapped | Perfect | NC_000005.10:g.(?_ 13900196)_(1394444 8_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 13,900,196 | 13,944,448 |
nssv17975198 | Submitted genomic | NC_000005.9:g.(?_1 3900305)_(13944557 _?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 13,900,305 | 13,944,557 |
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 |
---|---|---|---|---|---|---|---|
nssv17975198 | GRCh37: NC_000005.9:g.(?_13900305)_(13944557_?)del | deletion | germline | Ciliary dyskinesia; Primary ciliary dyskinesia; Primary ciliary dyskinesia | Pathogenic | ClinVar | RCV001940077.4, VCV001410400.9 |