nsv4325559
- Organism: Homo sapiens
- Study:nstd166 (gnomAD Structural Variants)
- Variant Type:inversion
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:27,817
- Publication(s):gnomAD_Structural_Variants
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: 58 SVs from 6 studies. See in: genome view
Overlapping variant regions from other studies: 58 SVs from 6 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4325559 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000020.11 | Chr20 | 10,533,579 | 10,561,395 |
nsv4325559 | Submitted genomic | GRCh37.p13 | Primary Assembly | NC_000020.10 | Chr20 | 10,514,227 | 10,542,043 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16091267 | inversion | Sequencing | Other |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16091267 | Remapped | Perfect | NC_000020.11:g.105 33579_10561395inv | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 10,533,579 | 10,561,395 |
nssv16091267 | Submitted genomic | NC_000020.10:g.105 14227_10542043inv | GRCh37.p13 | NC_000020.10 | Chr20 | 10,514,227 | 10,542,043 |
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) | Allele Count (AC) | Allele Number (AN) |
---|---|---|---|
nssv16091267 | 4.6e-005 | 1 | 21694 |