nsv6147306
- 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:49,244
- 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: 410 SVs from 74 studies. See in: genome view
Overlapping variant regions from other studies: 426 SVs from 76 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6147306 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000019.10 | Chr19 | 44,409,679 (-396, +1264) | 44,458,922 (-1370, +538) | ||
| nsv6147306 | Remapped | Good | GRCh37.p13 | Primary Assembly | First Pass | NC_000019.9 | Chr19 | 44,913,845 (-396, +1264) | 44,963,141 (-1370, +538) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17725232 | inversion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17725232 | Submitted genomic | NC_000019.10:g.(44 409283_44410943)_( 44457552_44459460) inv | GRCh38 (hg38) | NC_000019.10 | Chr19 | 44,409,679 (-396, +1264) | 44,458,922 (-1370, +538) | ||
| nssv17725232 | Remapped | Good | NC_000019.9:g.(449 13449_44915109)_(4 4961771_44963679)i nv | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 44,913,845 (-396, +1264) | 44,963,141 (-1370, +538) |
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) |
|---|---|---|---|
| nssv17725232 | 0.102 | 652 | 6404 |