nsv3112742
- 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:5,461
- 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: 1076 SVs from 82 studies. See in: genome view
Overlapping variant regions from other studies: 1076 SVs from 82 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3112742 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000018.10 | Chr18 | 69,083,486 | 69,088,946 |
| nsv3112742 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000018.9 | Chr18 | 66,750,723 | 66,756,183 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14099423 | deletion | sample36 | Oligo aCGH | Probe signal intensity | 48 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14099423 | Remapped | Perfect | NC_000018.10:g.(?_ 69083486)_(6908894 6_?)del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 69,083,486 | 69,088,946 |
| nssv14099423 | Submitted genomic | NC_000018.9:g.(?_6 6750723)_(66756183 _?)del | GRCh37 (hg19) | NC_000018.9 | Chr18 | 66,750,723 | 66,756,183 |