nsv5214257
- 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:340
- 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: 145 SVs from 52 studies. See in: genome view
Overlapping variant regions from other studies: 145 SVs from 52 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5214257 | Submitted genomic | GRCh38.p13 | Primary Assembly | NC_000016.10 | Chr16 | 19,219,120 | 19,219,459 | ||
| nsv5214257 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000016.9 | Chr16 | 19,230,442 | 19,230,781 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16752426 | alu 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv16752426 | Submitted genomic | NC_000016.10:g.192 19120_19219459del | GRCh38.p13 | NC_000016.10 | Chr16 | 19,219,120 | 19,219,459 | ||
| nssv16752426 | Remapped | Perfect | NC_000016.9:g.1923 0442_19230781del | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 19,230,442 | 19,230,781 |
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) |
|---|---|
| nssv16752426 | 0.772 |