nsv5324526
- 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:10,416
- 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: 117 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 117 SVs from 28 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv5324526 | Submitted genomic | GRCh38.p13 | Primary Assembly | NC_000006.12 | Chr6 | 23,543,315 | 23,553,730 (-2, +1) | ||
nsv5324526 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 23,543,543 | 23,553,958 (-2, +1) |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16750218 | 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 |
---|---|---|---|---|---|---|---|---|---|
nssv16750218 | Submitted genomic | NC_000006.12:g.235 43315_(23553728_23 553731)inv | GRCh38.p13 | NC_000006.12 | Chr6 | 23,543,315 | 23,553,730 (-2, +1) | ||
nssv16750218 | Remapped | Perfect | NC_000006.11:g.235 43543_(23553956_23 553959)inv | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 23,543,543 | 23,553,958 (-2, +1) |
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) |
---|---|
nssv16750218 | 0.021 |