nsv471506
- Organism: Homo sapiens
- Study:nstd31 (Alkan et al. 2009)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:NCBI35 (hg17)
- Variant Calls:1
- Validation:Yes
- Clinical Assertions: No
- Region Size:236,677
- Description:MNS1
- Publication(s):Alkan et al. 2009
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: 929 SVs from 88 studies. See in: genome view
Overlapping variant regions from other studies: 929 SVs from 88 studies. See in: genome view
Overlapping variant regions from other studies: 23 SVs from 8 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv471506 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 56,367,511 | 56,604,187 |
| nsv471506 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000015.9 | Chr15 | 56,659,709 | 56,896,385 |
| nsv471506 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000015.8 | Chr15 | 54,447,001 | 54,683,677 |
Variant Call Information
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv547861 | Remapped | Perfect | NC_000015.10:g.(56 367511_?)_(?_56604 187)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 56,367,511 | 56,604,187 |
| nssv547861 | Remapped | Perfect | NC_000015.9:g.(566 59709_?)_(?_568963 85)del | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 56,659,709 | 56,896,385 |
| nssv547861 | Submitted genomic | NC_000015.8:g.(544 47001_?)_(?_546836 77)del | NCBI35 (hg17) | NC_000015.8 | Chr15 | 54,447,001 | 54,683,677 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| nssv547861 | 3 | NA18507 | Oligo aCGH | Probe signal intensity | Pass |