nsv5482878
- 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:139,338
- 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: 485 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 485 SVs from 60 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5482878 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000010.11 | Chr10 | 15,472,622 (-20, +20) | 15,611,959 (-24, +20) | ||
| nsv5482878 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000010.10 | Chr10 | 15,514,621 (-20, +20) | 15,653,958 (-24, +20) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17032090 | duplication | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17032090 | Submitted genomic | NC_000010.11:g.(15 472602_15472642)_( 15611935_15611979) dup | GRCh38 (hg38) | NC_000010.11 | Chr10 | 15,472,622 (-20, +20) | 15,611,959 (-24, +20) | ||
| nssv17032090 | Remapped | Perfect | NC_000010.10:g.(15 514601_15514641)_( 15653934_15653978) dup | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 15,514,621 (-20, +20) | 15,653,958 (-24, +20) |
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) |
|---|---|---|---|
| nssv17032090 | <0.001 | 2 | 6404 |