nsv7072815
- 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:513,318
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: 3241 SVs from 109 studies. See in: genome view
Overlapping variant regions from other studies: 2593 SVs from 109 studies. See in: genome view
Overlapping variant regions from other studies: 1574 SVs from 61 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv7072815 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000019.10 | Chr19 | 20,300,622 | 20,813,939 | ||
| nsv7072815 | Remapped | Pass | GRCh37.p13 | Primary Assembly | Second Pass | NC_000019.9 | Chr19 | 20,411,431 | 20,845,946 |
| nsv7072815 | Remapped | Pass | GRCh37.p13 | PATCHES | First Pass | NW_003571053.2 | Chr19|NW_0 03571053.2 | 217,875 | 580,393 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv18759970 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv18759970 | Submitted genomic | NC_000019.10:g.203 00622_20813939inv | GRCh38 (hg38) | NC_000019.10 | Chr19 | 20,300,622 | 20,813,939 | ||
| nssv18759970 | Remapped | Pass | NW_003571053.2:g.2 17875_580393inv | GRCh37.p13 | First Pass | NW_003571053.2 | Chr19|NW_0 03571053.2 | 217,875 | 580,393 |
| nssv18759970 | Remapped | Pass | NC_000019.9:g.2041 1431_20845946inv | GRCh37.p13 | Second Pass | NC_000019.9 | Chr19 | 20,411,431 | 20,845,946 |
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) |
|---|---|---|---|
| nssv18759970 | 3.2e-05 | 9 | 273878 |