nsv481918
- Organism: Homo sapiens
- Study:nstd36 (Mitsui et al. 2010)
- Variant Type:copy number variation
- Method Type:Oligo aCGH, Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:94,027
- Publication(s):Mitsui et al. 2010
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 872 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 873 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 267 SVs from 12 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv481918 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 32,741,349 | 32,835,375 |
| nsv481918 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000023.10 | ChrX | 32,759,466 | 32,853,492 |
| nsv481918 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000023.9 | ChrX | 32,669,387 | 32,763,413 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation |
|---|---|---|---|---|---|---|
| nssv650198 | duplication | Oligo aCGH, Sequencing | Probe signal intensity, Sequence alignment | Muscular Dystrophy, Duchenne | Pathogenic | Submitter |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv650198 | Remapped | Perfect | NC_000023.11:g.327 41349_32835375dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 32,741,349 | 32,835,375 |
| nssv650198 | Remapped | Perfect | NC_000023.10:g.327 59466_32853492dup | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 32,759,466 | 32,853,492 |
| nssv650198 | Submitted genomic | NC_000023.9:g.3266 9387_32763413dup | NCBI36 (hg18) | NC_000023.9 | ChrX | 32,669,387 | 32,763,413 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Subject Phenotype | Clinical Interpretation | Source of Interpretation |
|---|---|---|---|---|---|
| nssv650198 | NCBI36: NC_000023.9:g.32669387_32763413dup | duplication | Muscular Dystrophy, Duchenne | Pathogenic | Submitter |