nsv5300641
- 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:4,559
- 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: 112 SVs from 26 studies. See in: genome view
Overlapping variant regions from other studies: 112 SVs from 26 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5300641 | Submitted genomic | GRCh38.p13 | Primary Assembly | NC_000006.12 | Chr6 | 32,844,440 (-5, +9) | 32,848,998 (-10, +9) | ||
| nsv5300641 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 32,812,217 (-5, +9) | 32,816,775 (-10, +9) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16757652 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv16757652 | Submitted genomic | NC_000006.12:g.(32 844435_32844449)_( 32848988_32849007) del | GRCh38.p13 | NC_000006.12 | Chr6 | 32,844,440 (-5, +9) | 32,848,998 (-10, +9) | ||
| nssv16757652 | Remapped | Perfect | NC_000006.11:g.(32 812212_32812226)_( 32816765_32816784) del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 32,812,217 (-5, +9) | 32,816,775 (-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) |
|---|---|
| nssv16757652 | <0.001 |