nsv7054202
- 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:19,079
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: 396 SVs from 65 studies. See in: genome view
Overlapping variant regions from other studies: 315 SVs from 55 studies. See in: genome view
Overlapping variant regions from other studies: 143 SVs from 27 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv7054202 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000004.12 | Chr4 | 189,978,448 | 189,997,526 | ||
| nsv7054202 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000004.11 | Chr4 | 190,899,603 | 190,918,681 |
| nsv7054202 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003571034.1 | Chr4|NW_00 3571034.1 | 71,378 | 90,456 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv18773690 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv18773690 | Submitted genomic | NC_000004.12:g.189 978448_189997526in v | GRCh38 (hg38) | NC_000004.12 | Chr4 | 189,978,448 | 189,997,526 | ||
| nssv18773690 | Remapped | Perfect | NW_003571034.1:g.7 1378_90456inv | GRCh37.p13 | First Pass | NW_003571034.1 | Chr4|NW_00 3571034.1 | 71,378 | 90,456 |
| nssv18773690 | Remapped | Perfect | NC_000004.11:g.190 899603_190918681in v | GRCh37.p13 | Second Pass | NC_000004.11 | Chr4 | 190,899,603 | 190,918,681 |
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) |
|---|---|---|---|
| nssv18773690 | 4e-06 | 1 | 276268 |