nsv5547524
- Organism: Homo sapiens
- Study:nstd206 (Byrska-Bishop et al. 2022)
- Variant Type:inversion
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:72,398
- Publication(s):Byrska-Bishop et al. 2022
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: 352 SVs from 53 studies. See in: genome view
Overlapping variant regions from other studies: 352 SVs from 53 studies. See in: genome view
Overlapping variant regions from other studies: 68 SVs from 21 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5547524 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 73,005,305 (-40, +472) | 73,077,702 (-95, +438) | ||
| nsv5547524 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000023.10 | ChrX | 72,225,144 (-40, +472) | 72,297,541 (-95, +438) |
| nsv5547524 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_004070882.1 | ChrX|NW_00 4070882.1 | 694,322 (-40, +472) | 766,719 (-95, +438) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17740708 | inversion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17740708 | Submitted genomic | NC_000023.11:g.(73 005265_73005777)_( 73077607_73078140) inv | GRCh38 (hg38) | NC_000023.11 | ChrX | 73,005,305 (-40, +472) | 73,077,702 (-95, +438) | ||
| nssv17740708 | Remapped | Perfect | NW_004070882.1:g.( 694282_694794)_(76 6624_767157)inv | GRCh37.p13 | First Pass | NW_004070882.1 | ChrX|NW_00 4070882.1 | 694,322 (-40, +472) | 766,719 (-95, +438) |
| nssv17740708 | Remapped | Perfect | NC_000023.10:g.(72 225104_72225616)_( 72297446_72297979) inv | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 72,225,144 (-40, +472) | 72,297,541 (-95, +438) |
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) |
|---|---|---|---|
| nssv17740708 | <0.001 | 2 | 6404 |