nsv481897
- 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:178,255
- 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: 1042 SVs from 49 studies. See in: genome view
Overlapping variant regions from other studies: 1043 SVs from 49 studies. See in: genome view
Overlapping variant regions from other studies: 266 SVs from 14 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv481897 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 31,649,564 | 31,827,818 |
nsv481897 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000023.10 | ChrX | 31,667,681 | 31,845,935 |
nsv481897 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000023.9 | ChrX | 31,577,602 | 31,755,856 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation |
---|---|---|---|---|---|---|
nssv650177 | 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 |
---|---|---|---|---|---|---|---|---|---|
nssv650177 | Remapped | Perfect | NC_000023.11:g.316 49564_31827818dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 31,649,564 | 31,827,818 |
nssv650177 | Remapped | Perfect | NC_000023.10:g.316 67681_31845935dup | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 31,667,681 | 31,845,935 |
nssv650177 | Submitted genomic | NC_000023.9:g.3157 7602_31755856dup | NCBI36 (hg18) | NC_000023.9 | ChrX | 31,577,602 | 31,755,856 |
No validation data were submitted for this variant
Clinical Assertions
Variant Call ID | HGVS | Type | Subject Phenotype | Clinical Interpretation | Source of Interpretation |
---|---|---|---|---|---|
nssv650177 | NCBI36: NC_000023.9:g.31577602_31755856dup | duplication | Muscular Dystrophy, Duchenne | Pathogenic | Submitter |