nsv5556729
- Organism: Homo sapiens
- Study:nstd206 (Byrska-Bishop et al. 2022)
- Variant Type:sequence alteration
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:493,774
- Description:complex variant
- 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: 1226 SVs from 70 studies. See in: genome view
Overlapping variant regions from other studies: 885 SVs from 65 studies. See in: genome view
Overlapping variant regions from other studies: 254 SVs from 26 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5556729 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 46,862,409 | 47,356,182 | ||
| nsv5556729 | Remapped | Pass | GRCh37.p13 | Primary Assembly | Second Pass | NC_000023.10 | ChrX | 46,721,844 | 47,079,810 |
| nsv5556729 | Remapped | Pass | GRCh37.p13 | PATCHES | First Pass | NW_004166866.1 | ChrX|NW_00 4166866.1 | 111,970 | 469,972 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17736767 | sequence alteration | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|
| nssv17736767 | Submitted genomic | GRCh38 (hg38) | NC_000023.11 | ChrX | 46,862,409 | 47,356,182 | ||
| nssv17736767 | Remapped | Pass | GRCh37.p13 | First Pass | NW_004166866.1 | ChrX|NW_00 4166866.1 | 111,970 | 469,972 |
| nssv17736767 | Remapped | Pass | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 46,721,844 | 47,079,810 |
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) |
|---|---|---|---|
| nssv17736767 | <0.001 | 1 | 6404 |