nsv7096479
- 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:6,869
- Description:NC_000003.11:g.(?_93692478)_(93699346_?)dup AND Joubert syndrome 8
- Publication(s):Parisi et al. 2003
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 82 SVs from 21 studies. See in: genome view
Overlapping variant regions from other studies: 82 SVs from 21 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv7096479 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 93,973,634 | 93,980,502 |
| nsv7096479 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 93,692,478 | 93,699,346 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18790266 | duplication | Multiple | Multiple | JOUBERT SYNDROME 8; JBTS8; Joubert Syndrome; Joubert syndrome; Joubert syndrome 8 | Uncertain significance | ClinVar | RCV003113929.1, VCV002427599.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18790266 | Remapped | Perfect | NC_000003.12:g.(?_ 93973634)_(9398050 2_?)dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 93,973,634 | 93,980,502 |
| nssv18790266 | Submitted genomic | NC_000003.11:g.(?_ 93692478)_(9369934 6_?)dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 93,692,478 | 93,699,346 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18790266 | GRCh37: NC_000003.11:g.(?_93692478)_(93699346_?)dup | duplication | germline | JOUBERT SYNDROME 8; JBTS8; Joubert Syndrome; Joubert syndrome; Joubert syndrome 8 | Uncertain significance | ClinVar | RCV003113929.1, VCV002427599.1 |