nsv7061516
- 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:5,285
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: 317 SVs from 37 studies. See in: genome view
Overlapping variant regions from other studies: 70 SVs from 21 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv7061516 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000008.11 | Chr8 | 2,114,515 | 2,119,799 | ||
| nsv7061516 | Remapped | Good | GRCh37.p13 | PATCHES | First Pass | NW_003571042.1 | Chr8|NW_00 3571042.1 | 96,917 | 102,199 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv18782397 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv18782397 | Submitted genomic | NC_000008.11:g.211 4515_2119799inv | GRCh38 (hg38) | NC_000008.11 | Chr8 | 2,114,515 | 2,119,799 | ||
| nssv18782397 | Remapped | Good | NW_003571042.1:g.9 6917_102199inv | GRCh37.p13 | First Pass | NW_003571042.1 | Chr8|NW_00 3571042.1 | 96,917 | 102,199 |
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) |
|---|---|---|---|
| nssv18782397 | 1.8e-05 | 5 | 273668 |