nsv5313780
- 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:51,200
- 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: 293 SVs from 51 studies. See in: genome view
Overlapping variant regions from other studies: 293 SVs from 51 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5313780 | Submitted genomic | GRCh38.p13 | Primary Assembly | NC_000012.12 | Chr12 | 5,468,213 (-3, +1) | 5,519,412 (-3, +3) | ||
| nsv5313780 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000012.11 | Chr12 | 5,577,379 (-3, +1) | 5,628,578 (-3, +3) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16746283 | duplication | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv16746283 | Submitted genomic | NC_000012.12:g.(54 68210_5468214)_(55 19409_5519415)dup | GRCh38.p13 | NC_000012.12 | Chr12 | 5,468,213 (-3, +1) | 5,519,412 (-3, +3) | ||
| nssv16746283 | Remapped | Perfect | NC_000012.11:g.(55 77376_5577380)_(56 28575_5628581)dup | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 5,577,379 (-3, +1) | 5,628,578 (-3, +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) |
|---|---|
| nssv16746283 | 0.001 |