nsv481905
- 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:55,684
- 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: 795 SVs from 45 studies. See in: genome view
Overlapping variant regions from other studies: 796 SVs from 45 studies. See in: genome view
Overlapping variant regions from other studies: 220 SVs from 12 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv481905 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 32,492,637 | 32,548,320 |
nsv481905 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000023.10 | ChrX | 32,510,754 | 32,566,437 |
nsv481905 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000023.9 | ChrX | 32,420,675 | 32,476,358 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation |
---|---|---|---|---|---|---|
nssv650185 | 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 |
---|---|---|---|---|---|---|---|---|---|
nssv650185 | Remapped | Perfect | NC_000023.11:g.324 92637_32548320dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 32,492,637 | 32,548,320 |
nssv650185 | Remapped | Perfect | NC_000023.10:g.325 10754_32566437dup | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 32,510,754 | 32,566,437 |
nssv650185 | Submitted genomic | NC_000023.9:g.3242 0675_32476358dup | NCBI36 (hg18) | NC_000023.9 | ChrX | 32,420,675 | 32,476,358 |
No validation data were submitted for this variant
Clinical Assertions
Variant Call ID | HGVS | Type | Subject Phenotype | Clinical Interpretation | Source of Interpretation |
---|---|---|---|---|---|
nssv650185 | NCBI36: NC_000023.9:g.32420675_32476358dup | duplication | Muscular Dystrophy, Duchenne | Pathogenic | Submitter |