nsv5296416
- 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:68
- 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: 86 SVs from 14 studies. See in: genome view
Overlapping variant regions from other studies: 114 SVs from 24 studies. See in: genome view
Overlapping variant regions from other studies: 6 SVs from 5 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5296416 | Submitted genomic | GRCh38.p13 | Primary Assembly | NC_000001.11 | Chr1 | 149,901,292 (-10, +9) | 149,901,359 (-10, +9) | ||
| nsv5296416 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000001.10 | Chr1 | 149,872,845 (-10, +9) | 149,872,912 (-10, +9) |
| nsv5296416 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003871055.3 | Chr1|NW_00 3871055.3 | 6,716,705 (-10, +9) | 6,716,772 (-10, +9) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16754293 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv16754293 | Submitted genomic | NC_000001.11:g.(14 9901282_149901301) _(149901349_149901 368)del | GRCh38.p13 | NC_000001.11 | Chr1 | 149,901,292 (-10, +9) | 149,901,359 (-10, +9) | ||
| nssv16754293 | Remapped | Perfect | NW_003871055.3:g.( 6716695_6716714)_( 6716762_6716781)de l | GRCh37.p13 | First Pass | NW_003871055.3 | Chr1|NW_00 3871055.3 | 6,716,705 (-10, +9) | 6,716,772 (-10, +9) |
| nssv16754293 | Remapped | Perfect | NC_000001.10:g.(14 9872835_149872854) _(149872902_149872 921)del | GRCh37.p13 | Second Pass | NC_000001.10 | Chr1 | 149,872,845 (-10, +9) | 149,872,912 (-10, +9) |
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) |
|---|---|
| nssv16754293 | <0.001 |