nsv3875818
- 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:4,473
- Description:NG_009095.2:g.(16929_16947)_(21383_21401)del AND X-linked cone-rod dystrophy 3
- Publication(s):Hauke et al. 2013
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 136 SVs from 33 studies. See in: genome view
Overlapping variant regions from other studies: 134 SVs from 32 studies. See in: genome view
Overlapping variant regions from other studies: 15 SVs from 6 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv3875818 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 49,216,966 | 49,216,984 | 49,221,420 | 49,221,438 | ||
| nsv3875818 | Remapped | Good | GRCh37.p13 | Primary Assembly | Second Pass | NC_000023.10 | ChrX | 49,073,426 | 49,073,426 | 49,077,897 | 49,077,897 |
| nsv3875818 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_004070880.2 | ChrX|NW_00 4070880.2 | 1,456,395 | 1,456,413 | 1,460,849 | 1,460,867 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15122523 | deletion | Multiple | Multiple | CONE-ROD DYSTROPHY, X-LINKED, 3; CORDX3; Cone rod dystrophy; Cone-rod dystrophy X-linked 3 | Pathogenic | ClinVar | RCV000201391.1, VCV000217444.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv15122523 | Submitted genomic | NC_000023.11:g.(49 216966_49216984)_( 49221420_49221438) del | GRCh38 (hg38) | NC_000023.11 | ChrX | 49,216,966 | 49,216,984 | 49,221,420 | 49,221,438 | ||
| nssv15122523 | Remapped | Perfect | NW_004070880.2:g.( 1456395_1456413)_( 1460849_1460867)de l | GRCh37.p13 | First Pass | NW_004070880.2 | ChrX|NW_00 4070880.2 | 1,456,395 | 1,456,413 | 1,460,849 | 1,460,867 |
| nssv15122523 | Remapped | Good | NC_000023.10:g.(49 073426_49073426)_( 49077897_49077897) del | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 49,073,426 | 49,073,426 | 49,077,897 | 49,077,897 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15122523 | GRCh38: NC_000023.11:g.(49216966_49216984)_(49221420_49221438)del | deletion | germline | CONE-ROD DYSTROPHY, X-LINKED, 3; CORDX3; Cone rod dystrophy; Cone-rod dystrophy X-linked 3 | Pathogenic | ClinVar | RCV000201391.1, VCV000217444.1 |