nsv7056110
- Organism: Homo sapiens
- Study:nstd229 (Jun et al. 2023)
- Variant Type:inversion
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:5,662,580
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: 18574 SVs from 122 studies. See in: genome view
Overlapping variant regions from other studies: 18585 SVs from 122 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv7056110 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000004.12 | Chr4 | 3,991,106 | 9,653,685 | ||
| nsv7056110 | Remapped | Good | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 3,992,833 | 9,655,309 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv18774169 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv18774169 | Submitted genomic | NC_000004.12:g.399 1106_9653685inv | GRCh38 (hg38) | NC_000004.12 | Chr4 | 3,991,106 | 9,653,685 | ||
| nssv18774169 | Remapped | Good | NC_000004.11:g.399 2833_9655309inv | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 3,992,833 | 9,655,309 |
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) |
|---|---|---|---|
| nssv18774169 | 5.1e-05 | 14 | 270202 |