nsv5564235
- 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:668
- Description:NC_000019.9:g.(?_48342557)_(48343224_?)dup AND multiple conditions
- 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: 81 SVs from 27 studies. See in: genome view
Overlapping variant regions from other studies: 81 SVs from 27 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 |
---|---|---|---|---|---|---|---|---|---|
nsv5564235 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 47,839,300 | 47,839,967 |
nsv5564235 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 48,342,557 | 48,343,224 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
---|---|---|---|---|---|---|---|
nssv17970522 | duplication | Multiple | Multiple | CONE-ROD DYSTROPHY 2; CORD2; Cone rod dystrophy; Cone-rod dystrophy 2; LEBER CONGENITAL AMAUROSIS 7; LCA7; Leber congenital amaurosis; Leber congenital amaurosis 7 | Uncertain significance | ClinVar | RCV001916120.3, VCV001409884.3 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17970522 | Remapped | Perfect | NC_000019.10:g.(?_ 47839300)_(4783996 7_?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 47,839,300 | 47,839,967 |
nssv17970522 | Submitted genomic | NC_000019.9:g.(?_4 8342557)_(48343224 _?)dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 48,342,557 | 48,343,224 |
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 |
---|---|---|---|---|---|---|---|
nssv17970522 | GRCh37: NC_000019.9:g.(?_48342557)_(48343224_?)dup | duplication | germline | CONE-ROD DYSTROPHY 2; CORD2; Cone rod dystrophy; Cone-rod dystrophy 2; LEBER CONGENITAL AMAUROSIS 7; LCA7; Leber congenital amaurosis; Leber congenital amaurosis 7 | Uncertain significance | ClinVar | RCV001916120.3, VCV001409884.3 |