nsv5324768
- 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:6,064
- 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: 169 SVs from 39 studies. See in: genome view
Overlapping variant regions from other studies: 169 SVs from 39 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5324768 | Submitted genomic | GRCh38.p13 | Primary Assembly | NC_000002.12 | Chr2 | 43,660,437 (-22, +21) | 43,666,500 (-23, +21) | ||
| nsv5324768 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 43,887,576 (-22, +21) | 43,893,639 (-23, +21) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16766127 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv16766127 | Submitted genomic | NC_000002.12:g.(43 660415_43660458)_( 43666477_43666521) del | GRCh38.p13 | NC_000002.12 | Chr2 | 43,660,437 (-22, +21) | 43,666,500 (-23, +21) | ||
| nssv16766127 | Remapped | Perfect | NC_000002.11:g.(43 887554_43887597)_( 43893616_43893660) del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 43,887,576 (-22, +21) | 43,893,639 (-23, +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) |
|---|---|
| nssv16766127 | <0.001 |