nsv5326027
- 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:100,354
- 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: 347 SVs from 41 studies. See in: genome view
Overlapping variant regions from other studies: 347 SVs from 41 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5326027 | Submitted genomic | GRCh38.p13 | Primary Assembly | NC_000002.12 | Chr2 | 180,304,842 (-7, +9) | 180,405,195 (-4, +2) | ||
| nsv5326027 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 181,169,569 (-7, +9) | 181,269,922 (-4, +2) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16752163 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv16752163 | Submitted genomic | NC_000002.12:g.(18 0304835_180304851) _(180405191_180405 197)inv | GRCh38.p13 | NC_000002.12 | Chr2 | 180,304,842 (-7, +9) | 180,405,195 (-4, +2) | ||
| nssv16752163 | Remapped | Perfect | NC_000002.11:g.(18 1169562_181169578) _(181269918_181269 924)inv | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 181,169,569 (-7, +9) | 181,269,922 (-4, +2) |
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) |
|---|---|
| nssv16752163 | <0.001 |