nsv5327227
- 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:17,312,563
- 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: 40449 SVs from 140 studies. See in: genome view
Overlapping variant regions from other studies: 40449 SVs from 140 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5327227 | Submitted genomic | GRCh38.p13 | Primary Assembly | NC_000002.12 | Chr2 | 150,443,727 (-9, +2) | 167,756,289 (-7, +4) | ||
| nsv5327227 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 151,300,241 (-9, +2) | 168,612,799 (-7, +4) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16740236 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv16740236 | Submitted genomic | NC_000002.12:g.(15 0443718_150443729) _(167756282_167756 293)inv | GRCh38.p13 | NC_000002.12 | Chr2 | 150,443,727 (-9, +2) | 167,756,289 (-7, +4) | ||
| nssv16740236 | Remapped | Perfect | NC_000002.11:g.(15 1300232_151300243) _(168612792_168612 803)inv | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 151,300,241 (-9, +2) | 168,612,799 (-7, +4) |
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) |
|---|---|
| nssv16740236 | <0.001 |