nsv5324729
- 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:74,510
- 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: 277 SVs from 40 studies. See in: genome view
Overlapping variant regions from other studies: 277 SVs from 40 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5324729 | Submitted genomic | GRCh38.p13 | Primary Assembly | NC_000020.11 | Chr20 | 2,105,594 (-210, +6) | 2,180,103 (-6, +298) | ||
| nsv5324729 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000020.10 | Chr20 | 2,086,240 (-210, +6) | 2,160,749 (-6, +298) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16752043 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv16752043 | Submitted genomic | NC_000020.11:g.(21 05384_2105600)_(21 80097_2180401)dup | GRCh38.p13 | NC_000020.11 | Chr20 | 2,105,594 (-210, +6) | 2,180,103 (-6, +298) | ||
| nssv16752043 | Remapped | Perfect | NC_000020.10:g.(20 86030_2086246)_(21 60743_2161047)dup | GRCh37.p13 | First Pass | NC_000020.10 | Chr20 | 2,086,240 (-210, +6) | 2,160,749 (-6, +298) |
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) |
|---|---|
| nssv16752043 | 0.001 |