nsv7057841
- 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:4,127
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: 101 SVs from 25 studies. See in: genome view
Overlapping variant regions from other studies: 98 SVs from 25 studies. See in: genome view
Overlapping variant regions from other studies: 6 SVs from 5 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv7057841 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 130,366,667 | 130,370,793 | ||
| nsv7057841 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000007.13 | Chr7 | 130,006,508 | 130,010,634 |
| nsv7057841 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003871065.1 | Chr7|NW_00 3871065.1 | 22,085 | 26,211 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv18779036 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv18779036 | Submitted genomic | NC_000007.14:g.130 366667_130370793in v | GRCh38 (hg38) | NC_000007.14 | Chr7 | 130,366,667 | 130,370,793 | ||
| nssv18779036 | Remapped | Perfect | NW_003871065.1:g.2 2085_26211inv | GRCh37.p13 | First Pass | NW_003871065.1 | Chr7|NW_00 3871065.1 | 22,085 | 26,211 |
| nssv18779036 | Remapped | Perfect | NC_000007.13:g.130 006508_130010634in v | GRCh37.p13 | Second Pass | NC_000007.13 | Chr7 | 130,006,508 | 130,010,634 |
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) |
|---|---|---|---|
| nssv18779036 | 7e-06 | 2 | 275300 |