nsv5283016
- Organism: Homo sapiens
- Study:nstd204 (Chen et al. 2021)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:10,520
- Publication(s):Chen et al. 2021
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: 191 SVs from 50 studies. See in: genome view
Overlapping variant regions from other studies: 191 SVs from 50 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5283016 | Submitted genomic | GRCh38.p13 | Primary Assembly | NC_000001.11 | Chr1 | 17,027,789 (-10, +7) | 17,038,308 (-3, +3) | ||
| nsv5283016 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 17,354,284 (-10, +7) | 17,364,803 (-3, +3) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16753349 | duplication | Sequencing | Split read and paired-end mapping |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16753349 | Submitted genomic | NC_000001.11:g.(17 027779_17027796)_( 17038305_17038311) dup | GRCh38.p13 | NC_000001.11 | Chr1 | 17,027,789 (-10, +7) | 17,038,308 (-3, +3) | ||
| nssv16753349 | Remapped | Perfect | NC_000001.10:g.(17 354274_17354291)_( 17364800_17364806) dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 17,354,284 (-10, +7) | 17,364,803 (-3, +3) |
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) |
|---|---|
| nssv16753349 | <0.001 |