nsv5323539
- 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:29,349
- 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: 374 SVs from 67 studies. See in: genome view
Overlapping variant regions from other studies: 374 SVs from 67 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5323539 | Submitted genomic | GRCh38.p13 | Primary Assembly | NC_000007.14 | Chr7 | 53,485,583 (-25, +25) | 53,514,931 (-30, +29) | ||
| nsv5323539 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 53,553,276 (-25, +25) | 53,582,624 (-30, +29) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16736707 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv16736707 | Submitted genomic | NC_000007.14:g.(53 485558_53485608)_( 53514901_53514960) inv | GRCh38.p13 | NC_000007.14 | Chr7 | 53,485,583 (-25, +25) | 53,514,931 (-30, +29) | ||
| nssv16736707 | Remapped | Perfect | NC_000007.13:g.(53 553251_53553301)_( 53582594_53582653) inv | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 53,553,276 (-25, +25) | 53,582,624 (-30, +29) |
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) |
|---|---|
| nssv16736707 | <0.001 |