nsv5544740
- 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:203
- 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: 147 SVs from 20 studies. See in: genome view
Overlapping variant regions from other studies: 147 SVs from 20 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5544740 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000021.9 | Chr21 | 33,542,105 (-41, +40) | 33,542,307 (-40, +40) | ||
| nsv5544740 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000021.8 | Chr21 | 34,914,411 (-41, +40) | 34,914,613 (-40, +40) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17726668 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17726668 | Submitted genomic | NC_000021.9:g.(335 42064_33542145)_(3 3542267_33542347)d el | GRCh38 (hg38) | NC_000021.9 | Chr21 | 33,542,105 (-41, +40) | 33,542,307 (-40, +40) | ||
| nssv17726668 | Remapped | Perfect | NC_000021.8:g.(349 14370_34914451)_(3 4914573_34914653)d el | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 34,914,411 (-41, +40) | 34,914,613 (-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) |
|---|---|---|---|
| nssv17726668 | <0.001 | 2 | 6404 |