nsv5560057
- 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:72,046
- 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: 1174 SVs from 73 studies. See in: genome view
Overlapping variant regions from other studies: 1174 SVs from 73 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5560057 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 111,505,823 (-40, +50) | 111,577,868 (-40, +50) | ||
| nsv5560057 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 111,145,879 (-40, +50) | 111,217,924 (-40, +50) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17002287 | inversion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17002287 | Submitted genomic | NC_000007.14:g.(11 1505783_111505873) _(111577828_111577 918)inv | GRCh38 (hg38) | NC_000007.14 | Chr7 | 111,505,823 (-40, +50) | 111,577,868 (-40, +50) | ||
| nssv17002287 | Remapped | Perfect | NC_000007.13:g.(11 1145839_111145929) _(111217884_111217 974)inv | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 111,145,879 (-40, +50) | 111,217,924 (-40, +50) |
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) |
|---|---|---|---|
| nssv17002287 | <0.001 | 4 | 6404 |