nsv5326856
- Organism: Homo sapiens
- Study:nstd204 (Chen et al. 2021)
- Variant Type:mobile element deletion
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:6,112
- 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: 492 SVs from 63 studies. See in: genome view
Overlapping variant regions from other studies: 492 SVs from 63 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5326856 | Submitted genomic | GRCh38.p13 | Primary Assembly | NC_000012.12 | Chr12 | 63,633,790 (-30, +433) | 63,639,901 (-458, +29) | ||
| nsv5326856 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000012.11 | Chr12 | 64,027,570 (-30, +433) | 64,033,681 (-458, +29) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16745530 | line1 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv16745530 | Submitted genomic | NC_000012.12:g.(63 633760_63634223)_( 63639443_63639930) del | GRCh38.p13 | NC_000012.12 | Chr12 | 63,633,790 (-30, +433) | 63,639,901 (-458, +29) | ||
| nssv16745530 | Remapped | Perfect | NC_000012.11:g.(64 027540_64028003)_( 64033223_64033710) del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 64,027,570 (-30, +433) | 64,033,681 (-458, +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) |
|---|---|
| nssv16745530 | <0.001 |