nsv5288343
- 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:904,354
- 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: 2414 SVs from 90 studies. See in: genome view
Overlapping variant regions from other studies: 2419 SVs from 90 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5288343 | Submitted genomic | GRCh38.p13 | Primary Assembly | NC_000002.12 | Chr2 | 113,322,645 (-5, +2) | 114,226,998 (-10, +9) | ||
| nsv5288343 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 114,080,222 (-5, +2) | 114,984,575 (-10, +9) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16740124 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv16740124 | Submitted genomic | NC_000002.12:g.(11 3322640_113322647) _(114226988_114227 007)dup | GRCh38.p13 | NC_000002.12 | Chr2 | 113,322,645 (-5, +2) | 114,226,998 (-10, +9) | ||
| nssv16740124 | Remapped | Perfect | NC_000002.11:g.(11 4080217_114080224) _(114984565_114984 584)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 114,080,222 (-5, +2) | 114,984,575 (-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) |
|---|---|
| nssv16740124 | <0.001 |