nsv5320946
- 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:17,031
- 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: 114 SVs from 25 studies. See in: genome view
Overlapping variant regions from other studies: 114 SVs from 25 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv5320946 | Submitted genomic | GRCh38.p13 | Primary Assembly | NC_000007.14 | Chr7 | 41,332,222 (-3, +2) | 41,349,252 (-10, +9) | ||
nsv5320946 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 41,371,820 (-3, +2) | 41,388,850 (-10, +9) |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16737886 | 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 |
---|---|---|---|---|---|---|---|---|---|
nssv16737886 | Submitted genomic | NC_000007.14:g.(41 332219_41332224)_( 41349242_41349261) inv | GRCh38.p13 | NC_000007.14 | Chr7 | 41,332,222 (-3, +2) | 41,349,252 (-10, +9) | ||
nssv16737886 | Remapped | Perfect | NC_000007.13:g.(41 371817_41371822)_( 41388840_41388859) inv | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 41,371,820 (-3, +2) | 41,388,850 (-10, +9) |
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) |
---|---|
nssv16737886 | <0.001 |