nsv7073468
- 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:143,991
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: 2048 SVs from 93 studies. See in: genome view
Overlapping variant regions from other studies: 397 SVs from 33 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv7073468 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000014.9 | Chr14 | 106,672,906 | 106,816,896 | ||
nsv7073468 | Remapped | Pass | GRCh37.p13 | PATCHES | First Pass | NW_004166863.1 | Chr14|NW_0 04166863.1 | 1,405,283 | 1,480,063 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv18754253 | 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 |
---|---|---|---|---|---|---|---|---|---|
nssv18754253 | Submitted genomic | NC_000014.9:g.1066 72906_106816896inv | GRCh38 (hg38) | NC_000014.9 | Chr14 | 106,672,906 | 106,816,896 | ||
nssv18754253 | Remapped | Pass | NW_004166863.1:g.1 405283_1480063inv | GRCh37.p13 | First Pass | NW_004166863.1 | Chr14|NW_0 04166863.1 | 1,405,283 | 1,480,063 |
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) |
---|---|---|---|
nssv18754253 | 2.5e-05 | 7 | 273556 |