nsv3168746
- Organism: Homo sapiens
- Study:nstd158 (Cleal et al. 2019)
- Variant Type:inversion
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:63,722,245
- Publication(s):Cleal et al. 2019
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: 172819 SVs from 144 studies. See in: genome view
Overlapping variant regions from other studies: 171816 SVs from 144 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3168746 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 2,336,044 (-454, +454) | 66,058,288 (-454, +454) |
| nsv3168746 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 2,445,210 (-454, +454) | 66,452,068 (-454, +454) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14239992 | inversion | DB46 | Sequencing | Paired-end mapping | 54 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14239992 | Remapped | Good | NC_000012.12:g.(23 35590_2336498)_(66 057834_66058742)in v164 | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 2,336,044 (-454, +454) | 66,058,288 (-454, +454) |
| nssv14239992 | Submitted genomic | NC_000012.11:g.(24 44756_2445664)_(66 451614_66452522)in v164 | GRCh37 (hg19) | NC_000012.11 | Chr12 | 2,445,210 (-454, +454) | 66,452,068 (-454, +454) |