nsv481701
- 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:44,982
- 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: 1039 SVs from 73 studies. See in: genome view
Overlapping variant regions from other studies: 1039 SVs from 73 studies. See in: genome view
Overlapping variant regions from other studies: 317 SVs from 23 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv481701 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 162,250,064 | 162,295,045 |
| nsv481701 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 162,671,096 | 162,716,077 |
| nsv481701 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 162,591,086 | 162,636,067 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation |
|---|---|---|---|---|---|---|
| nssv649981 | duplication | Oligo aCGH, Sequencing | Probe signal intensity, Sequence alignment | Parkinsonian Disorders | Pathogenic | Submitter |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv649981 | Remapped | Perfect | NC_000006.12:g.162 250064_162295045du p | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 162,250,064 | 162,295,045 |
| nssv649981 | Remapped | Perfect | NC_000006.11:g.162 671096_162716077du p | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 162,671,096 | 162,716,077 |
| nssv649981 | Submitted genomic | NC_000006.10:g.162 591086_162636067du p | NCBI36 (hg18) | NC_000006.10 | Chr6 | 162,591,086 | 162,636,067 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Subject Phenotype | Clinical Interpretation | Source of Interpretation |
|---|---|---|---|---|---|
| nssv649981 | NCBI36: NC_000006.10:g.162591086_162636067dup | duplication | Parkinsonian Disorders | Pathogenic | Submitter |