nsv5324090
- Organism: Homo sapiens
- Study:nstd204 (Chen et al. 2021)
- Variant Type:inversion
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:8,630,212
- Publication(s):Chen et al. 2021
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: 22561 SVs from 123 studies. See in: genome view
Overlapping variant regions from other studies: 22571 SVs from 123 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5324090 | Submitted genomic | GRCh38.p13 | Primary Assembly | NC_000020.11 | Chr20 | 36,955,253 (-4, +2) | 45,585,464 (-2, +6) | ||
| nsv5324090 | Remapped | Good | GRCh37.p13 | Primary Assembly | First Pass | NC_000020.10 | Chr20 | 35,583,656 (-4, +2) | 44,214,103 (-2, +6) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16748622 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv16748622 | Submitted genomic | NC_000020.11:g.(36 955249_36955255)_( 45585462_45585470) inv | GRCh38.p13 | NC_000020.11 | Chr20 | 36,955,253 (-4, +2) | 45,585,464 (-2, +6) | ||
| nssv16748622 | Remapped | Good | NC_000020.10:g.(35 583652_35583658)_( 44214101_44214109) inv | GRCh37.p13 | First Pass | NC_000020.10 | Chr20 | 35,583,656 (-4, +2) | 44,214,103 (-2, +6) |
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) |
|---|---|
| nssv16748622 | <0.001 |