nsv5304605
- 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:383,786
- 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: 1485 SVs from 97 studies. See in: genome view
Overlapping variant regions from other studies: 1490 SVs from 97 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5304605 | Submitted genomic | GRCh38.p13 | Primary Assembly | NC_000010.11 | Chr10 | 53,043,871 (-25, +25) | 53,427,656 (-26, +22) | ||
| nsv5304605 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000010.10 | Chr10 | 54,803,631 (-25, +25) | 55,187,416 (-26, +22) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16754692 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv16754692 | Submitted genomic | NC_000010.11:g.(53 043846_53043896)_( 53427630_53427678) del | GRCh38.p13 | NC_000010.11 | Chr10 | 53,043,871 (-25, +25) | 53,427,656 (-26, +22) | ||
| nssv16754692 | Remapped | Perfect | NC_000010.10:g.(54 803606_54803656)_( 55187390_55187438) del | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 54,803,631 (-25, +25) | 55,187,416 (-26, +22) |
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) |
|---|---|
| nssv16754692 | <0.001 |