nsv5325648
- 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:254
- 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: 131 SVs from 18 studies. See in: genome view
Overlapping variant regions from other studies: 128 SVs from 17 studies. See in: genome view
Overlapping variant regions from other studies: 5 SVs from 5 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5325648 | Submitted genomic | GRCh38.p13 | Primary Assembly | NC_000017.11 | Chr17 | 41,981,341 (-9, +8) | 41,981,594 (-9, +8) | ||
| nsv5325648 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000017.10 | Chr17 | 40,133,359 (-9, +8) | 40,133,612 (-9, +8) |
| nsv5325648 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003571052.1 | Chr17|NW_0 03571052.1 | 267,983 (-9, +8) | 268,236 (-9, +8) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16764887 | deletion | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv16764887 | Submitted genomic | NC_000017.11:g.(41 981332_41981349)_( 41981585_41981602) del | GRCh38.p13 | NC_000017.11 | Chr17 | 41,981,341 (-9, +8) | 41,981,594 (-9, +8) | ||
| nssv16764887 | Remapped | Perfect | NW_003571052.1:g.( 267974_267991)_(26 8227_268244)del | GRCh37.p13 | First Pass | NW_003571052.1 | Chr17|NW_0 03571052.1 | 267,983 (-9, +8) | 268,236 (-9, +8) |
| nssv16764887 | Remapped | Perfect | NC_000017.10:g.(40 133350_40133367)_( 40133603_40133620) del | GRCh37.p13 | Second Pass | NC_000017.10 | Chr17 | 40,133,359 (-9, +8) | 40,133,612 (-9, +8) |
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) |
|---|---|
| nssv16764887 | <0.001 |