nsv5322551
- 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:6,247
- 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: 314 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 314 SVs from 47 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5322551 | Submitted genomic | GRCh38.p13 | Primary Assembly | NC_000005.10 | Chr5 | 13,416,495 | 13,422,741 | ||
| nsv5322551 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000005.9 | Chr5 | 13,416,607 | 13,422,853 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16758454 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv16758454 | Submitted genomic | NC_000005.10:g.134 16495_13422741del | GRCh38.p13 | NC_000005.10 | Chr5 | 13,416,495 | 13,422,741 | ||
| nssv16758454 | Remapped | Perfect | NC_000005.9:g.1341 6607_13422853del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 13,416,607 | 13,422,853 |
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) |
|---|---|
| nssv16758454 | 0.241 |