nsv5311950
- 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:70,657
- 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: 379 SVs from 50 studies. See in: genome view
Overlapping variant regions from other studies: 379 SVs from 50 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5311950 | Submitted genomic | GRCh38.p13 | Primary Assembly | NC_000004.12 | Chr4 | 82,566,892 (-24, +21) | 82,637,548 (-23, +23) | ||
| nsv5311950 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 83,488,045 (-24, +21) | 83,558,701 (-23, +23) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16745498 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv16745498 | Submitted genomic | NC_000004.12:g.(82 566868_82566913)_( 82637525_82637571) dup | GRCh38.p13 | NC_000004.12 | Chr4 | 82,566,892 (-24, +21) | 82,637,548 (-23, +23) | ||
| nssv16745498 | Remapped | Perfect | NC_000004.11:g.(83 488021_83488066)_( 83558678_83558724) dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 83,488,045 (-24, +21) | 83,558,701 (-23, +23) |
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) |
|---|---|
| nssv16745498 | <0.001 |