nsv3116722
- 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:3,562
- 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: 380 SVs from 66 studies. See in: genome view
Overlapping variant regions from other studies: 380 SVs from 66 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3116722 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 106,135,443 | 106,139,004 |
| nsv3116722 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 107,056,600 | 107,060,161 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14092253 | deletion | sample239 | Oligo aCGH | Probe signal intensity | 46 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14092253 | Remapped | Perfect | NC_000004.12:g.(?_ 106135443)_(106139 004_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 106,135,443 | 106,139,004 |
| nssv14092253 | Submitted genomic | NC_000004.11:g.(?_ 107056600)_(107060 161_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 107,056,600 | 107,060,161 |