nsv481763
- 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:289,683
- 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: 1291 SVs from 54 studies. See in: genome view
Overlapping variant regions from other studies: 1292 SVs from 54 studies. See in: genome view
Overlapping variant regions from other studies: 314 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 |
---|---|---|---|---|---|---|---|---|---|
nsv481763 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 31,635,671 | 31,925,353 |
nsv481763 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000023.10 | ChrX | 31,653,788 | 31,943,470 |
nsv481763 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000023.9 | ChrX | 31,563,709 | 31,853,391 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation |
---|---|---|---|---|---|---|
nssv650043 | 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 |
---|---|---|---|---|---|---|---|---|---|
nssv650043 | Remapped | Perfect | NC_000023.11:g.316 35671_31925353del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 31,635,671 | 31,925,353 |
nssv650043 | Remapped | Perfect | NC_000023.10:g.316 53788_31943470del | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 31,653,788 | 31,943,470 |
nssv650043 | Submitted genomic | NC_000023.9:g.3156 3709_31853391del | NCBI36 (hg18) | NC_000023.9 | ChrX | 31,563,709 | 31,853,391 |
No validation data were submitted for this variant
Clinical Assertions
Variant Call ID | HGVS | Type | Subject Phenotype | Clinical Interpretation | Source of Interpretation |
---|---|---|---|---|---|
nssv650043 | NCBI36: NC_000023.9:g.31563709_31853391del | deletion | Muscular Dystrophy, Duchenne | Pathogenic | Submitter |