nsv5319080
- 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:1,008,605
- 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: 3001 SVs from 101 studies. See in: genome view
Overlapping variant regions from other studies: 3007 SVs from 101 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5319080 | Submitted genomic | GRCh38.p13 | Primary Assembly | NC_000010.11 | Chr10 | 51,430,169 (-23, +21) | 52,438,773 (-22, +21) | ||
| nsv5319080 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000010.10 | Chr10 | 53,189,929 (-23, +21) | 54,198,533 (-22, +21) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16740974 | duplication | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv16740974 | Submitted genomic | NC_000010.11:g.(51 430146_51430190)_( 52438751_52438794) dup | GRCh38.p13 | NC_000010.11 | Chr10 | 51,430,169 (-23, +21) | 52,438,773 (-22, +21) | ||
| nssv16740974 | Remapped | Perfect | NC_000010.10:g.(53 189906_53189950)_( 54198511_54198554) dup | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 53,189,929 (-23, +21) | 54,198,533 (-22, +21) |
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) |
|---|---|
| nssv16740974 | <0.001 |