nsv5326600
- 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:44,100,340
- 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: 117018 SVs from 150 studies. See in: genome view
Overlapping variant regions from other studies: 116891 SVs from 150 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5326600 | Submitted genomic | GRCh38.p13 | Primary Assembly | NC_000007.14 | Chr7 | 97,691,558 (-5, +3) | 141,791,897 (-4, +7) | ||
| nsv5326600 | Remapped | Good | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 97,320,870 (-5, +3) | 141,491,697 (-4, +7) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16742226 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv16742226 | Submitted genomic | NC_000007.14:g.(97 691553_97691561)_( 141791893_14179190 4)inv | GRCh38.p13 | NC_000007.14 | Chr7 | 97,691,558 (-5, +3) | 141,791,897 (-4, +7) | ||
| nssv16742226 | Remapped | Good | NC_000007.13:g.(97 320865_97320873)_( 141491693_14149170 4)inv | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 97,320,870 (-5, +3) | 141,491,697 (-4, +7) |
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) |
|---|---|
| nssv16742226 | <0.001 |