nsv7044037
- 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:270,926
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: 1110 SVs from 86 studies. See in: genome view
Overlapping variant regions from other studies: 1205 SVs from 82 studies. See in: genome view
Overlapping variant regions from other studies: 461 SVs from 46 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv7044037 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 147,326,086 | 147,597,011 | ||
| nsv7044037 | Remapped | Good | GRCh37.p13 | Primary Assembly | Second Pass | NC_000001.10 | Chr1 | 146,797,813 | 147,068,804 |
| nsv7044037 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003871055.3 | Chr1|NW_00 3871055.3 | 4,141,499 | 4,412,424 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv18732113 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv18732113 | Submitted genomic | NC_000001.11:g.147 326086_147597011in v | GRCh38 (hg38) | NC_000001.11 | Chr1 | 147,326,086 | 147,597,011 | ||
| nssv18732113 | Remapped | Perfect | NW_003871055.3:g.4 141499_4412424inv | GRCh37.p13 | First Pass | NW_003871055.3 | Chr1|NW_00 3871055.3 | 4,141,499 | 4,412,424 |
| nssv18732113 | Remapped | Good | NC_000001.10:g.146 797813_147068804in v | GRCh37.p13 | Second Pass | NC_000001.10 | Chr1 | 146,797,813 | 147,068,804 |
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) |
|---|---|---|---|
| nssv18732113 | 4e-06 | 1 | 276268 |