nsv481907
- 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:24,337
- 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: 727 SVs from 34 studies. See in: genome view
Overlapping variant regions from other studies: 728 SVs from 34 studies. See in: genome view
Overlapping variant regions from other studies: 209 SVs from 10 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv481907 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 32,595,112 | 32,619,448 |
| nsv481907 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000023.10 | ChrX | 32,613,229 | 32,637,565 |
| nsv481907 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000023.9 | ChrX | 32,523,150 | 32,547,486 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation |
|---|---|---|---|---|---|---|
| nssv650187 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv650187 | Remapped | Perfect | NC_000023.11:g.325 95112_32619448dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 32,595,112 | 32,619,448 |
| nssv650187 | Remapped | Perfect | NC_000023.10:g.326 13229_32637565dup | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 32,613,229 | 32,637,565 |
| nssv650187 | Submitted genomic | NC_000023.9:g.3252 3150_32547486dup | NCBI36 (hg18) | NC_000023.9 | ChrX | 32,523,150 | 32,547,486 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Subject Phenotype | Clinical Interpretation | Source of Interpretation |
|---|---|---|---|---|---|
| nssv650187 | NCBI36: NC_000023.9:g.32523150_32547486dup | duplication | Muscular Dystrophy, Duchenne | Pathogenic | Submitter |