nsv5498527
- 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:3,105
- 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: 114 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 116 SVs from 32 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5498527 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000012.12 | Chr12 | 54,095,510 (-40, +56) | 54,098,614 (-70, +41) | ||
| nsv5498527 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000012.11 | Chr12 | 54,489,294 (-40, +56) | 54,492,398 (-70, +41) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17057567 | duplication | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17057567 | Submitted genomic | NC_000012.12:g.(54 095470_54095566)_( 54098544_54098655) dup | GRCh38 (hg38) | NC_000012.12 | Chr12 | 54,095,510 (-40, +56) | 54,098,614 (-70, +41) | ||
| nssv17057567 | Remapped | Perfect | NC_000012.11:g.(54 489254_54489350)_( 54492328_54492439) dup | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 54,489,294 (-40, +56) | 54,492,398 (-70, +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) |
|---|---|---|---|
| nssv17057567 | <0.001 | 2 | 6404 |