nsv481814
- 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:492,257
- 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: 1702 SVs from 73 studies. See in: genome view
Overlapping variant regions from other studies: 1703 SVs from 73 studies. See in: genome view
Overlapping variant regions from other studies: 385 SVs from 18 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv481814 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 31,548,197 | 32,040,453 |
| nsv481814 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000023.10 | ChrX | 31,566,314 | 32,058,570 |
| nsv481814 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000023.9 | ChrX | 31,476,235 | 31,968,491 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation |
|---|---|---|---|---|---|---|
| nssv650094 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv650094 | Remapped | Perfect | NC_000023.11:g.315 48197_32040453del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 31,548,197 | 32,040,453 |
| nssv650094 | Remapped | Perfect | NC_000023.10:g.315 66314_32058570del | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 31,566,314 | 32,058,570 |
| nssv650094 | Submitted genomic | NC_000023.9:g.3147 6235_31968491del | NCBI36 (hg18) | NC_000023.9 | ChrX | 31,476,235 | 31,968,491 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Subject Phenotype | Clinical Interpretation | Source of Interpretation |
|---|---|---|---|---|---|
| nssv650094 | NCBI36: NC_000023.9:g.31476235_31968491del | deletion | Muscular Dystrophy, Duchenne | Pathogenic | Submitter |