nsv5316023
- 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:243,103
- 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: 597 SVs from 58 studies. See in: genome view
Overlapping variant regions from other studies: 585 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 301 SVs from 31 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5316023 | Submitted genomic | GRCh38.p13 | Primary Assembly | NC_000010.11 | Chr10 | 115,301,990 (-10, +9) | 115,545,092 (-10, +3) | ||
| nsv5316023 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000010.10 | Chr10 | 117,061,500 (-10, +9) | 117,304,602 (-10, +3) |
| nsv5316023 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_004775432.1 | Chr10|NW_0 04775432.1 | 275,454 (-10, +9) | 518,556 (-10, +3) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16739523 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv16739523 | Submitted genomic | NC_000010.11:g.(11 5301980_115301999) _(115545082_115545 095)del | GRCh38.p13 | NC_000010.11 | Chr10 | 115,301,990 (-10, +9) | 115,545,092 (-10, +3) | ||
| nssv16739523 | Remapped | Perfect | NW_004775432.1:g.( 275444_275463)_(51 8546_518559)del | GRCh37.p13 | First Pass | NW_004775432.1 | Chr10|NW_0 04775432.1 | 275,454 (-10, +9) | 518,556 (-10, +3) |
| nssv16739523 | Remapped | Perfect | NC_000010.10:g.(11 7061490_117061509) _(117304592_117304 605)del | GRCh37.p13 | Second Pass | NC_000010.10 | Chr10 | 117,061,500 (-10, +9) | 117,304,602 (-10, +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) |
|---|---|
| nssv16739523 | <0.001 |