nsv7054280
- 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:1,972,905
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: 5976 SVs from 101 studies. See in: genome view
Overlapping variant regions from other studies: 5982 SVs from 101 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv7054280 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 128,104,928 | 130,077,832 | ||
| nsv7054280 | Remapped | Good | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 127,744,980 | 129,717,672 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv18778993 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv18778993 | Submitted genomic | NC_000007.14:g.128 104928_130077832in v | GRCh38 (hg38) | NC_000007.14 | Chr7 | 128,104,928 | 130,077,832 | ||
| nssv18778993 | Remapped | Good | NC_000007.13:g.127 744980_129717672in v | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 127,744,980 | 129,717,672 |
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) |
|---|---|---|---|
| nssv18778993 | <0.001 | 100 | 271598 |