nsv7043032
- 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:46,982
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: 272 SVs from 48 studies. See in: genome view
Overlapping variant regions from other studies: 182 SVs from 45 studies. See in: genome view
Overlapping variant regions from other studies: 50 SVs from 14 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv7043032 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000006.12 | Chr6 | 26,565,562 | 26,612,543 | ||
| nsv7043032 | Remapped | Pass | GRCh37.p13 | Primary Assembly | Second Pass | NC_000006.11 | Chr6 | 26,585,843 | 26,612,771 |
| nsv7043032 | Remapped | Pass | GRCh37.p13 | PATCHES | First Pass | NW_004070866.1 | Chr6|NW_00 4070866.1 | 1 | 26,929 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv18778497 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv18778497 | Submitted genomic | NC_000006.12:g.265 65562_26612543inv | GRCh38 (hg38) | NC_000006.12 | Chr6 | 26,565,562 | 26,612,543 | ||
| nssv18778497 | Remapped | Pass | NW_004070866.1:g.1 _26929inv | GRCh37.p13 | First Pass | NW_004070866.1 | Chr6|NW_00 4070866.1 | 1 | 26,929 |
| nssv18778497 | Remapped | Pass | NC_000006.11:g.265 85843_26612771inv | GRCh37.p13 | Second Pass | NC_000006.11 | Chr6 | 26,585,843 | 26,612,771 |
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) |
|---|---|---|---|
| nssv18778497 | 4e-06 | 1 | 276268 |