nsv5327458
- Organism: Homo sapiens
- Study:nstd204 (Chen et al. 2021)
- Variant Type:inversion
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:482,295
- Publication(s):Chen et al. 2021
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: 1196 SVs from 66 studies. See in: genome view
Overlapping variant regions from other studies: 1196 SVs from 66 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5327458 | Submitted genomic | GRCh38.p13 | Primary Assembly | NC_000018.10 | Chr18 | 38,055,521 (-2, +1) | 38,537,815 (-10, +7) | ||
| nsv5327458 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000018.9 | Chr18 | 35,635,485 (-2, +1) | 36,117,779 (-10, +7) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16737624 | inversion | Sequencing | Split read and paired-end mapping |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16737624 | Submitted genomic | NC_000018.10:g.(38 055519_38055522)_( 38537805_38537822) inv | GRCh38.p13 | NC_000018.10 | Chr18 | 38,055,521 (-2, +1) | 38,537,815 (-10, +7) | ||
| nssv16737624 | Remapped | Perfect | NC_000018.9:g.(356 35483_35635486)_(3 6117769_36117786)i nv | GRCh37.p13 | First Pass | NC_000018.9 | Chr18 | 35,635,485 (-2, +1) | 36,117,779 (-10, +7) |
No validation data were submitted for this variant
No clinical assertion data were submitted for this variant
Complete genotype and/or allele frequency data for this study can be found on dbVar's FTP site.
Genotype Information
| Variant Call ID | Allele Frequency (AF) |
|---|---|
| nssv16737624 | <0.001 |