nsv3113227
- Organism: Homo sapiens
- Study:nstd145 (Lu et al. 2017)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:9,553
- Publication(s):Lu et al. 2017
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: 191 SVs from 40 studies. See in: genome view
Overlapping variant regions from other studies: 191 SVs from 40 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3113227 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 49,023,588 | 49,033,140 |
| nsv3113227 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 49,250,727 | 49,260,279 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14103358 | duplication | sample425 | Oligo aCGH | Probe signal intensity | 63 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14103358 | Remapped | Perfect | NC_000002.12:g.(?_ 49023588)_(4903314 0_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 49,023,588 | 49,033,140 |
| nssv14103358 | Submitted genomic | NC_000002.11:g.(?_ 49250727)_(4926027 9_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 49,250,727 | 49,260,279 |