nsv3114543
- 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:335,928
- 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: 918 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 918 SVs from 60 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3114543 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 18,316,026 | 18,651,953 |
| nsv3114543 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 18,317,649 | 18,653,576 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14090539 | duplication | sample160 | Oligo aCGH | Probe signal intensity | 90 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14090539 | Remapped | Perfect | NC_000004.12:g.(?_ 18316026)_(1865195 3_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 18,316,026 | 18,651,953 |
| nssv14090539 | Submitted genomic | NC_000004.11:g.(?_ 18317649)_(1865357 6_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 18,317,649 | 18,653,576 |