nsv7058684
- 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:12,026
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: 221 SVs from 42 studies. See in: genome view
Overlapping variant regions from other studies: 194 SVs from 41 studies. See in: genome view
Overlapping variant regions from other studies: 66 SVs from 19 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv7058684 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000012.12 | Chr12 | 132,261,544 | 132,273,569 | ||
| nsv7058684 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000012.11 | Chr12 | 132,838,130 | 132,850,155 |
| nsv7058684 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003315937.1 | Chr12|NW_0 03315937.1 | 35,583 | 47,608 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv18751570 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv18751570 | Submitted genomic | NC_000012.12:g.132 261544_132273569in v | GRCh38 (hg38) | NC_000012.12 | Chr12 | 132,261,544 | 132,273,569 | ||
| nssv18751570 | Remapped | Perfect | NW_003315937.1:g.3 5583_47608inv | GRCh37.p13 | First Pass | NW_003315937.1 | Chr12|NW_0 03315937.1 | 35,583 | 47,608 |
| nssv18751570 | Remapped | Perfect | NC_000012.11:g.132 838130_132850155in v | GRCh37.p13 | Second Pass | NC_000012.11 | Chr12 | 132,838,130 | 132,850,155 |
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) |
|---|---|---|---|
| nssv18751570 | 4e-06 | 1 | 276268 |