nsv5212235
- 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: 187 SVs from 41 studies. See in: genome view
Overlapping variant regions from other studies: 187 SVs from 41 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5212235 | Submitted genomic | GRCh38.p13 | Primary Assembly | NC_000005.10 | Chr5 | 118,046,055 | 118,046,394 | ||
| nsv5212235 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000005.9 | Chr5 | 117,381,750 | 117,382,089 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16770434 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv16770434 | Submitted genomic | NC_000005.10:g.118 046055_118046394de l | GRCh38.p13 | NC_000005.10 | Chr5 | 118,046,055 | 118,046,394 | ||
| nssv16770434 | Remapped | Perfect | NC_000005.9:g.1173 81750_117382089del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 117,381,750 | 117,382,089 |
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) |
|---|---|
| nssv16770434 | 0.264 |