nsv5493512
- Organism: Homo sapiens
- Study:nstd206 (Byrska-Bishop et al. 2022)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1,797
- Publication(s):Byrska-Bishop et al. 2022
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: 109 SVs from 21 studies. See in: genome view
Overlapping variant regions from other studies: 109 SVs from 21 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5493512 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000008.11 | Chr8 | 73,779,455 (-270, +128) | 73,781,251 (-90, +288) | ||
| nsv5493512 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000008.10 | Chr8 | 74,691,690 (-270, +128) | 74,693,486 (-90, +288) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17012098 | duplication | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17012098 | Submitted genomic | NC_000008.11:g.(73 779185_73779583)_( 73781161_73781539) dup | GRCh38 (hg38) | NC_000008.11 | Chr8 | 73,779,455 (-270, +128) | 73,781,251 (-90, +288) | ||
| nssv17012098 | Remapped | Perfect | NC_000008.10:g.(74 691420_74691818)_( 74693396_74693774) dup | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 74,691,690 (-270, +128) | 74,693,486 (-90, +288) |
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) | Allele Count (AC) | Allele Number (AN) |
|---|---|---|---|
| nssv17012098 | <0.001 | 4 | 6404 |