nsv7047374
- 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:5,579
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: 121 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 121 SVs from 28 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv7047374 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 137,461,763 | 137,467,341 | ||
nsv7047374 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 137,146,509 | 137,152,087 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv18781294 | 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 |
---|---|---|---|---|---|---|---|---|---|
nssv18781294 | Submitted genomic | NC_000007.14:g.137 461763_137467341in v | GRCh38 (hg38) | NC_000007.14 | Chr7 | 137,461,763 | 137,467,341 | ||
nssv18781294 | Remapped | Perfect | NC_000007.13:g.137 146509_137152087in v | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 137,146,509 | 137,152,087 |
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) |
---|---|---|---|
nssv18781294 | 6.4e-05 | 18 | 274644 |