nsv5544974
- 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:7,929
- 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: 80 SVs from 24 studies. See in: genome view
Overlapping variant regions from other studies: 80 SVs from 24 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5544974 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000022.11 | Chr22 | 40,027,762 (-42, +40) | 40,035,690 (-40, +42) | ||
| nsv5544974 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000022.10 | Chr22 | 40,423,766 (-42, +40) | 40,431,694 (-40, +42) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17729047 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17729047 | Submitted genomic | NC_000022.11:g.(40 027720_40027802)_( 40035650_40035732) del | GRCh38 (hg38) | NC_000022.11 | Chr22 | 40,027,762 (-42, +40) | 40,035,690 (-40, +42) | ||
| nssv17729047 | Remapped | Perfect | NC_000022.10:g.(40 423724_40423806)_( 40431654_40431736) del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 40,423,766 (-42, +40) | 40,431,694 (-40, +42) |
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) |
|---|---|---|---|
| nssv17729047 | <0.001 | 2 | 6404 |