nsv6147075
- Organism: Homo sapiens
- Study:nstd206 (Byrska-Bishop et al. 2022)
- Variant Type:inversion
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:42,093
- Publication(s):Byrska-Bishop et al. 2022
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: 370 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 386 SVs from 74 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6147075 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000019.10 | Chr19 | 44,413,286 (-782, +62) | 44,455,378 (-635, +164) | ||
| nsv6147075 | Remapped | Good | GRCh37.p13 | Primary Assembly | First Pass | NC_000019.9 | Chr19 | 44,917,455 (-782, +62) | 44,959,592 (-635, +164) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17725234 | inversion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17725234 | Submitted genomic | NC_000019.10:g.(44 412504_44413348)_( 44454743_44455542) inv | GRCh38 (hg38) | NC_000019.10 | Chr19 | 44,413,286 (-782, +62) | 44,455,378 (-635, +164) | ||
| nssv17725234 | Remapped | Good | NC_000019.9:g.(449 16673_44917517)_(4 4958957_44959756)i nv | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 44,917,455 (-782, +62) | 44,959,592 (-635, +164) |
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) |
|---|---|---|---|
| nssv17725234 | 0.041 | 260 | 6404 |