nsv481719
- 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:337,110
- 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: 1307 SVs from 69 studies. See in: genome view
Overlapping variant regions from other studies: 1308 SVs from 69 studies. See in: genome view
Overlapping variant regions from other studies: 305 SVs from 15 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv481719 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 31,451,983 | 31,789,092 |
| nsv481719 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000023.10 | ChrX | 31,470,100 | 31,807,209 |
| nsv481719 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000023.9 | ChrX | 31,380,021 | 31,717,130 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation |
|---|---|---|---|---|---|---|
| nssv649999 | deletion | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv649999 | Remapped | Perfect | NC_000023.11:g.314 51983_31789092del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 31,451,983 | 31,789,092 |
| nssv649999 | Remapped | Perfect | NC_000023.10:g.314 70100_31807209del | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 31,470,100 | 31,807,209 |
| nssv649999 | Submitted genomic | NC_000023.9:g.3138 0021_31717130del | NCBI36 (hg18) | NC_000023.9 | ChrX | 31,380,021 | 31,717,130 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Subject Phenotype | Clinical Interpretation | Source of Interpretation |
|---|---|---|---|---|---|
| nssv649999 | NCBI36: NC_000023.9:g.31380021_31717130del | deletion | Muscular Dystrophy, Duchenne | Pathogenic | Submitter |