nsv481922
- 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:76,958
- 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: 776 SVs from 51 studies. See in: genome view
Overlapping variant regions from other studies: 777 SVs from 51 studies. See in: genome view
Overlapping variant regions from other studies: 241 SVs from 13 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv481922 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 32,825,272 | 32,902,229 |
| nsv481922 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000023.10 | ChrX | 32,843,389 | 32,920,346 |
| nsv481922 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000023.9 | ChrX | 32,753,310 | 32,830,267 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation |
|---|---|---|---|---|---|---|
| nssv650202 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv650202 | Remapped | Perfect | NC_000023.11:g.328 25272_32902229dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 32,825,272 | 32,902,229 |
| nssv650202 | Remapped | Perfect | NC_000023.10:g.328 43389_32920346dup | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 32,843,389 | 32,920,346 |
| nssv650202 | Submitted genomic | NC_000023.9:g.3275 3310_32830267dup | NCBI36 (hg18) | NC_000023.9 | ChrX | 32,753,310 | 32,830,267 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Subject Phenotype | Clinical Interpretation | Source of Interpretation |
|---|---|---|---|---|---|
| nssv650202 | NCBI36: NC_000023.9:g.32753310_32830267dup | duplication | Muscular Dystrophy, Duchenne | Pathogenic | Submitter |