nsv5563088
- Organism: Homo sapiens
- Study:nstd206 (Byrska-Bishop et al. 2022)
- Variant Type:inversion
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:47,394
- Publication(s):Byrska-Bishop et al. 2022
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: 302 SVs from 56 studies. See in: genome view
Overlapping variant regions from other studies: 302 SVs from 56 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5563088 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000013.11 | Chr13 | 42,461,150 (-40, +53) | 42,508,543 (-52, +41) | ||
| nsv5563088 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000013.10 | Chr13 | 43,035,286 (-40, +53) | 43,082,679 (-52, +41) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17687224 | inversion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17687224 | Submitted genomic | NC_000013.11:g.(42 461110_42461203)_( 42508491_42508584) inv | GRCh38 (hg38) | NC_000013.11 | Chr13 | 42,461,150 (-40, +53) | 42,508,543 (-52, +41) | ||
| nssv17687224 | Remapped | Perfect | NC_000013.10:g.(43 035246_43035339)_( 43082627_43082720) inv | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 43,035,286 (-40, +53) | 43,082,679 (-52, +41) |
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) | Allele Count (AC) | Allele Number (AN) |
|---|---|---|---|
| nssv17687224 | <0.001 | 4 | 6404 |