nsv5321926
- 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:5,492,601
- 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: 13433 SVs from 128 studies. See in: genome view
Overlapping variant regions from other studies: 13423 SVs from 128 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5321926 | Submitted genomic | GRCh38.p13 | Primary Assembly | NC_000007.14 | Chr7 | 94,269,848 (-5, +9) | 99,762,448 (-10, +9) | ||
| nsv5321926 | Remapped | Good | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 93,899,160 (-5, +9) | 99,360,071 (-10, +9) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16749421 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv16749421 | Submitted genomic | NC_000007.14:g.(94 269843_94269857)_( 99762438_99762457) inv | GRCh38.p13 | NC_000007.14 | Chr7 | 94,269,848 (-5, +9) | 99,762,448 (-10, +9) | ||
| nssv16749421 | Remapped | Good | NC_000007.13:g.(93 899155_93899169)_( 99360061_99360080) inv | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 93,899,160 (-5, +9) | 99,360,071 (-10, +9) |
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) |
|---|---|
| nssv16749421 | <0.001 |