nsv5547396
- Organism: Homo sapiens
- Study:nstd206 (Byrska-Bishop et al. 2022)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:810
- 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: 217 SVs from 49 studies. See in: genome view
Overlapping variant regions from other studies: 219 SVs from 49 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5547396 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000022.11 | Chr22 | 18,105,903 (-40, +40) | 18,106,712 (-40, +40) | ||
| nsv5547396 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000022.10 | Chr22 | 18,588,669 (-40, +40) | 18,589,478 (-40, +40) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17727554 | duplication | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17727554 | Submitted genomic | NC_000022.11:g.(18 105863_18105943)_( 18106672_18106752) dup | GRCh38 (hg38) | NC_000022.11 | Chr22 | 18,105,903 (-40, +40) | 18,106,712 (-40, +40) | ||
| nssv17727554 | Remapped | Perfect | NC_000022.10:g.(18 588629_18588709)_( 18589438_18589518) dup | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 18,588,669 (-40, +40) | 18,589,478 (-40, +40) |
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) |
|---|---|---|---|
| nssv17727554 | 0.816 | 5225 | 6404 |