nsv7062264
- 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:68,679
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: 711 SVs from 67 studies. See in: genome view
Overlapping variant regions from other studies: 683 SVs from 66 studies. See in: genome view
Overlapping variant regions from other studies: 376 SVs from 29 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv7062264 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000012.12 | Chr12 | 132,291,934 | 132,360,612 | ||
| nsv7062264 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000012.11 | Chr12 | 132,868,520 | 132,937,198 |
| nsv7062264 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003315937.1 | Chr12|NW_0 03315937.1 | 65,973 | 134,651 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv18751572 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv18751572 | Submitted genomic | NC_000012.12:g.132 291934_132360612in v | GRCh38 (hg38) | NC_000012.12 | Chr12 | 132,291,934 | 132,360,612 | ||
| nssv18751572 | Remapped | Perfect | NW_003315937.1:g.6 5973_134651inv | GRCh37.p13 | First Pass | NW_003315937.1 | Chr12|NW_0 03315937.1 | 65,973 | 134,651 |
| nssv18751572 | Remapped | Perfect | NC_000012.11:g.132 868520_132937198in v | GRCh37.p13 | Second Pass | NC_000012.11 | Chr12 | 132,868,520 | 132,937,198 |
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) |
|---|---|---|---|
| nssv18751572 | 4e-06 | 1 | 276268 |