nsv481760
- 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:296,840
- 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: 1315 SVs from 55 studies. See in: genome view
Overlapping variant regions from other studies: 1316 SVs from 55 studies. See in: genome view
Overlapping variant regions from other studies: 317 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv481760 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 31,619,505 | 31,916,344 |
| nsv481760 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000023.10 | ChrX | 31,637,622 | 31,934,461 |
| nsv481760 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000023.9 | ChrX | 31,547,543 | 31,844,382 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation |
|---|---|---|---|---|---|---|
| nssv650040 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv650040 | Remapped | Perfect | NC_000023.11:g.316 19505_31916344del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 31,619,505 | 31,916,344 |
| nssv650040 | Remapped | Perfect | NC_000023.10:g.316 37622_31934461del | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 31,637,622 | 31,934,461 |
| nssv650040 | Submitted genomic | NC_000023.9:g.3154 7543_31844382del | NCBI36 (hg18) | NC_000023.9 | ChrX | 31,547,543 | 31,844,382 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Subject Phenotype | Clinical Interpretation | Source of Interpretation |
|---|---|---|---|---|---|
| nssv650040 | NCBI36: NC_000023.9:g.31547543_31844382del | deletion | Muscular Dystrophy, Duchenne | Pathogenic | Submitter |