nsv6134771
- Organism: Homo sapiens
- Study:nstd213 (Pham et al. 2021)
- Variant Type:inversion
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:78,414
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: 331 SVs from 54 studies. See in: genome view
Overlapping variant regions from other studies: 162 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 331 SVs from 54 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv6134771 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 175,386,493 | 175,386,493 | 175,464,906 | 175,464,906 |
| nsv6134771 | Remapped | Good | GRCh38.p12 | PATCHES | Second Pass | NW_019805489.1 | Chr3|NW_01 9805489.1 | 60,010 | 60,010 | 138,418 | 138,418 |
| nsv6134771 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 175,104,282 | 175,104,283 | 175,182,693 | 175,182,694 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv17678075 | inversion | SAMN20524659 | Sequencing | Paired-end mapping | 203 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv17678075 | Remapped | Good | NW_019805489.1:g.( 60010_60010)_(1384 18_138418)inv | GRCh38.p12 | Second Pass | NW_019805489.1 | Chr3|NW_01 9805489.1 | 60,010 | 60,010 | 138,418 | 138,418 |
| nssv17678075 | Remapped | Good | NC_000003.12:g.(17 5386493_175386493) _(175464906_175464 906)inv | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 175,386,493 | 175,386,493 | 175,464,906 | 175,464,906 |
| nssv17678075 | Submitted genomic | NC_000003.11:g.(17 5104282_175104283) _(175182693_175182 694)inv | GRCh37 (hg19) | NC_000003.11 | Chr3 | 175,104,282 | 175,104,283 | 175,182,693 | 175,182,694 |