nsv5324633
- 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:13,764
- 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: 207 SVs from 49 studies. See in: genome view
Overlapping variant regions from other studies: 207 SVs from 49 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv5324633 | Submitted genomic | GRCh38.p13 | Primary Assembly | NC_000004.12 | Chr4 | 117,406,129 (+5) | 117,419,892 (-3, +2) | ||
nsv5324633 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 118,327,285 (+5) | 118,341,048 (-3, +2) |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16756014 | 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 |
---|---|---|---|---|---|---|---|---|---|
nssv16756014 | Submitted genomic | NC_000004.12:g.(?_ 117406134)_(117419 889_117419894)inv | GRCh38.p13 | NC_000004.12 | Chr4 | 117,406,129 (+5) | 117,419,892 (-3, +2) | ||
nssv16756014 | Remapped | Perfect | NC_000004.11:g.(?_ 118327290)_(118341 045_118341050)inv | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 118,327,285 (+5) | 118,341,048 (-3, +2) |
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) |
---|---|
nssv16756014 | <0.001 |