nsv5323462
- 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:1,473
- 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: 219 SVs from 24 studies. See in: genome view
Overlapping variant regions from other studies: 219 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv5323462 | Submitted genomic | GRCh38.p13 | Primary Assembly | NC_000018.10 | Chr18 | 35,285,254 (-5, +6) | 35,286,726 (-7, +3) | ||
| nsv5323462 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000018.9 | Chr18 | 32,865,218 (-5, +6) | 32,866,690 (-7, +3) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16758598 | deletion | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv16758598 | Submitted genomic | NC_000018.10:g.(35 285249_35285260)_( 35286719_35286729) del | GRCh38.p13 | NC_000018.10 | Chr18 | 35,285,254 (-5, +6) | 35,286,726 (-7, +3) | ||
| nssv16758598 | Remapped | Perfect | NC_000018.9:g.(328 65213_32865224)_(3 2866683_32866693)d el | GRCh37.p13 | First Pass | NC_000018.9 | Chr18 | 32,865,218 (-5, +6) | 32,866,690 (-7, +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) |
|---|---|
| nssv16758598 | <0.001 |