nsv7038256
- 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:189,044
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: 681 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 679 SVs from 59 studies. See in: genome view
Overlapping variant regions from other studies: 142 SVs from 32 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv7038256 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 103,921,291 | 104,110,334 | ||
| nsv7038256 | Remapped | Pass | GRCh37.p13 | Primary Assembly | Second Pass | NC_000023.10 | ChrX | 103,175,874 | 103,355,025 |
| nsv7038256 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_004070885.1 | ChrX|NW_00 4070885.1 | 57,707 | 246,750 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv18765574 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv18765574 | Submitted genomic | NC_000023.11:g.103 921291_104110334in v | GRCh38 (hg38) | NC_000023.11 | ChrX | 103,921,291 | 104,110,334 | ||
| nssv18765574 | Remapped | Perfect | NW_004070885.1:g.5 7707_246750inv | GRCh37.p13 | First Pass | NW_004070885.1 | ChrX|NW_00 4070885.1 | 57,707 | 246,750 |
| nssv18765574 | Remapped | Pass | NC_000023.10:g.103 175874_103355025in v | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 103,175,874 | 103,355,025 |
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) |
|---|---|---|---|
| nssv18765574 | 7.8e-05 | 17 | 217949 |