nsv6310712
- 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:32,294
- Description:NC_000001.10:g.(?_10003560)_(10035853_?)dup AND Leber congenital amaurosis 9
- 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: 226 SVs from 45 studies. See in: genome view
Overlapping variant regions from other studies: 226 SVs from 45 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6310712 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 9,943,502 | 9,975,795 |
| nsv6310712 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 10,003,560 | 10,035,853 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17972480 | duplication | Multiple | Multiple | LEBER CONGENITAL AMAUROSIS 9; LCA9; Leber congenital amaurosis; Leber congenital amaurosis 9 | Uncertain significance | ClinVar | RCV001976831.3, VCV001479557.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17972480 | Remapped | Perfect | NC_000001.11:g.(?_ 9943502)_(9975795_ ?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 9,943,502 | 9,975,795 |
| nssv17972480 | Submitted genomic | NC_000001.10:g.(?_ 10003560)_(1003585 3_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 10,003,560 | 10,035,853 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17972480 | GRCh37: NC_000001.10:g.(?_10003560)_(10035853_?)dup | duplication | germline | LEBER CONGENITAL AMAUROSIS 9; LCA9; Leber congenital amaurosis; Leber congenital amaurosis 9 | Uncertain significance | ClinVar | RCV001976831.3, VCV001479557.3 |