nsv5562456
- 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:443
- 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: 166 SVs from 29 studies. See in: genome view
Overlapping variant regions from other studies: 166 SVs from 29 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5562456 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000013.11 | Chr13 | 97,456,271 (-16, +24) | 97,456,713 (-20, +20) | ||
| nsv5562456 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000013.10 | Chr13 | 98,108,525 (-16, +24) | 98,108,967 (-20, +20) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17694067 | inversion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17694067 | Submitted genomic | NC_000013.11:g.(97 456255_97456295)_( 97456693_97456733) inv | GRCh38 (hg38) | NC_000013.11 | Chr13 | 97,456,271 (-16, +24) | 97,456,713 (-20, +20) | ||
| nssv17694067 | Remapped | Perfect | NC_000013.10:g.(98 108509_98108549)_( 98108947_98108987) inv | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 98,108,525 (-16, +24) | 98,108,967 (-20, +20) |
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) |
|---|---|---|---|
| nssv17694067 | 0.026 | 164 | 6404 |