nsv7039148
- 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:4,806,607
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: 15183 SVs from 115 studies. See in: genome view
Overlapping variant regions from other studies: 15190 SVs from 115 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv7039148 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000004.12 | Chr4 | 4,150,240 | 8,956,846 | ||
| nsv7039148 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 4,151,967 | 8,958,572 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv18774193 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv18774193 | Submitted genomic | NC_000004.12:g.415 0240_8956846inv | GRCh38 (hg38) | NC_000004.12 | Chr4 | 4,150,240 | 8,956,846 | ||
| nssv18774193 | Remapped | Perfect | NC_000004.11:g.415 1967_8958572inv | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 4,151,967 | 8,958,572 |
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) |
|---|---|---|---|
| nssv18774193 | 0.154 | 36327 | 236670 |