nsv7056440
- 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:109,140
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: 752 SVs from 74 studies. See in: genome view
Overlapping variant regions from other studies: 819 SVs from 73 studies. See in: genome view
Overlapping variant regions from other studies: 270 SVs from 39 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv7056440 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 146,990,375 | 147,099,514 | ||
| nsv7056440 | Remapped | Good | GRCh37.p13 | Primary Assembly | Second Pass | NC_000001.10 | Chr1 | 146,464,012 | 146,571,098 |
| nsv7056440 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003871055.3 | Chr1|NW_00 3871055.3 | 3,805,788 | 3,914,927 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv18733623 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv18733623 | Submitted genomic | NC_000001.11:g.146 990375_147099514in v | GRCh38 (hg38) | NC_000001.11 | Chr1 | 146,990,375 | 147,099,514 | ||
| nssv18733623 | Remapped | Perfect | NW_003871055.3:g.3 805788_3914927inv | GRCh37.p13 | First Pass | NW_003871055.3 | Chr1|NW_00 3871055.3 | 3,805,788 | 3,914,927 |
| nssv18733623 | Remapped | Good | NC_000001.10:g.146 464012_146571098in v | GRCh37.p13 | Second Pass | NC_000001.10 | Chr1 | 146,464,012 | 146,571,098 |
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) |
|---|---|---|---|
| nssv18733623 | 3.2e-05 | 9 | 275266 |