nsv5329290
- 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:6,266
- 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: 245 SVs from 40 studies. See in: genome view
Overlapping variant regions from other studies: 245 SVs from 40 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5329290 | Submitted genomic | GRCh38.p13 | Primary Assembly | NC_000013.11 | Chr13 | 74,426,103 (-10, +9) | 74,432,368 (-10, +9) | ||
| nsv5329290 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000013.10 | Chr13 | 75,000,240 (-10, +9) | 75,006,505 (-10, +9) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16743827 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv16743827 | Submitted genomic | NC_000013.11:g.(74 426093_74426112)_( 74432358_74432377) del | GRCh38.p13 | NC_000013.11 | Chr13 | 74,426,103 (-10, +9) | 74,432,368 (-10, +9) | ||
| nssv16743827 | Remapped | Perfect | NC_000013.10:g.(75 000230_75000249)_( 75006495_75006514) del | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 75,000,240 (-10, +9) | 75,006,505 (-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) |
|---|---|
| nssv16743827 | <0.001 |