nsv3116088
- 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:5,404
- 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: 160 SVs from 36 studies. See in: genome view
Overlapping variant regions from other studies: 160 SVs from 36 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 |
---|---|---|---|---|---|---|---|---|---|
nsv3116088 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 133,990,051 | 133,995,454 |
nsv3116088 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 134,747,622 | 134,753,025 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv14103302 | deletion | sample91 | 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 |
---|---|---|---|---|---|---|---|---|---|
nssv14103302 | Remapped | Perfect | NC_000002.12:g.(?_ 133990051)_(133995 454_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 133,990,051 | 133,995,454 |
nssv14103302 | Submitted genomic | NC_000002.11:g.(?_ 134747622)_(134753 025_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 134,747,622 | 134,753,025 |