nsv5298398
- 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:218,411
- 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: 1337 SVs from 88 studies. See in: genome view
Overlapping variant regions from other studies: 1337 SVs from 88 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5298398 | Submitted genomic | GRCh38.p13 | Primary Assembly | NC_000001.11 | Chr1 | 189,356,882 (-25, +27) | 189,575,292 (-26, +22) | ||
| nsv5298398 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 189,326,012 (-25, +27) | 189,544,422 (-26, +22) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16738681 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv16738681 | Submitted genomic | NC_000001.11:g.(18 9356857_189356909) _(189575266_189575 314)del | GRCh38.p13 | NC_000001.11 | Chr1 | 189,356,882 (-25, +27) | 189,575,292 (-26, +22) | ||
| nssv16738681 | Remapped | Perfect | NC_000001.10:g.(18 9325987_189326039) _(189544396_189544 444)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 189,326,012 (-25, +27) | 189,544,422 (-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) |
|---|---|
| nssv16738681 | <0.001 |