nsv5286250
- 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:913
- 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: 216 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 216 SVs from 57 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5286250 | Submitted genomic | GRCh38.p13 | Primary Assembly | NC_000001.11 | Chr1 | 21,981,941 (-30, +92) | 21,982,853 (-294, +29) | ||
| nsv5286250 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 22,308,434 (-30, +92) | 22,309,346 (-294, +29) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16744573 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv16744573 | Submitted genomic | NC_000001.11:g.(21 981911_21982033)_( 21982559_21982882) del | GRCh38.p13 | NC_000001.11 | Chr1 | 21,981,941 (-30, +92) | 21,982,853 (-294, +29) | ||
| nssv16744573 | Remapped | Perfect | NC_000001.10:g.(22 308404_22308526)_( 22309052_22309375) del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 22,308,434 (-30, +92) | 22,309,346 (-294, +29) |
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) |
|---|---|
| nssv16744573 | <0.001 |