nsv3169098
- 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:93,230,805
- 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: 231827 SVs from 146 studies. See in: genome view
Overlapping variant regions from other studies: 230776 SVs from 146 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3169098 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 27,943,575 (-541, +541) | 121,174,379 (-541, +541) |
| nsv3169098 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 28,096,508 (-541, +541) | 121,612,182 (-541, +541) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14239994 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv14239994 | Remapped | Good | NC_000012.12:g.(27 943034_27944116)_( 121173838_12117492 0)inv | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 27,943,575 (-541, +541) | 121,174,379 (-541, +541) |
| nssv14239994 | Submitted genomic | NC_000012.11:g.(28 095967_28097049)_( 121611641_12161272 3)inv | GRCh37 (hg19) | NC_000012.11 | Chr12 | 28,096,508 (-541, +541) | 121,612,182 (-541, +541) |