nsv7062974
- Organism: Homo sapiens
- Study:nstd229 (Jun et al. 2023)
- Variant Type:inversion
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1,796,804
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: 4249 SVs from 110 studies. See in: genome view
Overlapping variant regions from other studies: 4402 SVs from 110 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv7062974 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000015.10 | Chr15 | 82,270,374 | 84,067,177 | ||
| nsv7062974 | Remapped | Pass | GRCh37.p13 | Primary Assembly | First Pass | NC_000015.9 | Chr15 | 82,562,715 | 84,735,929 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv18755171 | inversion | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv18755171 | Submitted genomic | NC_000015.10:g.822 70374_84067177inv | GRCh38 (hg38) | NC_000015.10 | Chr15 | 82,270,374 | 84,067,177 | ||
| nssv18755171 | Remapped | Pass | NC_000015.9:g.8256 2715_84735929inv | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 82,562,715 | 84,735,929 |
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) | Allele Count (AC) | Allele Number (AN) |
|---|---|---|---|
| nssv18755171 | <0.001 | 30 | 273430 |