nsv7044060
- 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:1,747,355
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: 3084 SVs from 85 studies. See in: genome view
Overlapping variant regions from other studies: 3110 SVs from 85 studies. See in: genome view
Overlapping variant regions from other studies: 612 SVs from 39 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv7044060 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 134,736,748 | 136,484,102 | ||
| nsv7044060 | Remapped | Good | GRCh37.p13 | Primary Assembly | First Pass | NC_000023.10 | ChrX | 133,870,778 | 135,566,261 |
| nsv7044060 | Remapped | Pass | GRCh37.p13 | PATCHES | First Pass | NW_004070887.1 | ChrX|NW_00 4070887.1 | 1 | 1,045,622 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv18765532 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv18765532 | Submitted genomic | NC_000023.11:g.134 736748_136484102in v | GRCh38 (hg38) | NC_000023.11 | ChrX | 134,736,748 | 136,484,102 | ||
| nssv18765532 | Remapped | Pass | NW_004070887.1:g.1 _1045622inv | GRCh37.p13 | First Pass | NW_004070887.1 | ChrX|NW_00 4070887.1 | 1 | 1,045,622 |
| nssv18765532 | Remapped | Good | NC_000023.10:g.133 870778_135566261in v | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 133,870,778 | 135,566,261 |
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) |
|---|---|---|---|
| nssv18765532 | 9e-06 | 2 | 222222 |