nsv4716560
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:8,296
- Description:NC_000004.12:g.(?_154740841)_(154749136_?)del AND Leber congenital amaurosis 14
- Publication(s):Kumaran et al. 2018
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 98 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 98 SVs from 28 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4716560 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000004.12 | Chr4 | 154,740,841 | 154,749,136 | ||
| nsv4716560 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 155,661,993 | 155,670,288 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16252166 | deletion | Multiple | Multiple | LEBER CONGENITAL AMAUROSIS 14; LCA14; Leber congenital amaurosis 14 | Pathogenic | ClinVar | RCV001257114.1, VCV000978446.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16252166 | Submitted genomic | NC_000004.12:g.(?_ 154740841)_(154749 136_?)del | GRCh38 (hg38) | NC_000004.12 | Chr4 | 154,740,841 | 154,749,136 | ||
| nssv16252166 | Remapped | Perfect | NC_000004.11:g.(?_ 155661993)_(155670 288_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 155,661,993 | 155,670,288 |
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 |
|---|---|---|---|---|---|---|---|
| nssv16252166 | GRCh38: NC_000004.12:g.(?_154740841)_(154749136_?)del | deletion | inherited | LEBER CONGENITAL AMAUROSIS 14; LCA14; Leber congenital amaurosis 14 | Pathogenic | ClinVar | RCV001257114.1, VCV000978446.1 |