nsv481811
- 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:354,122
- 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: 1463 SVs from 65 studies. See in: genome view
Overlapping variant regions from other studies: 1464 SVs from 65 studies. See in: genome view
Overlapping variant regions from other studies: 339 SVs from 16 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv481811 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 31,673,773 | 32,027,894 |
| nsv481811 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000023.10 | ChrX | 31,691,890 | 32,046,011 |
| nsv481811 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000023.9 | ChrX | 31,601,811 | 31,955,932 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation |
|---|---|---|---|---|---|---|
| nssv650091 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv650091 | Remapped | Perfect | NC_000023.11:g.316 73773_32027894del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 31,673,773 | 32,027,894 |
| nssv650091 | Remapped | Perfect | NC_000023.10:g.316 91890_32046011del | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 31,691,890 | 32,046,011 |
| nssv650091 | Submitted genomic | NC_000023.9:g.3160 1811_31955932del | NCBI36 (hg18) | NC_000023.9 | ChrX | 31,601,811 | 31,955,932 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Subject Phenotype | Clinical Interpretation | Source of Interpretation |
|---|---|---|---|---|---|
| nssv650091 | NCBI36: NC_000023.9:g.31601811_31955932del | deletion | Muscular Dystrophy, Duchenne | Pathogenic | Submitter |