nsv5421799
- Organism: Homo sapiens
- Study:nstd206 (Byrska-Bishop et al. 2022)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1,425
- 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: 279 SVs from 26 studies. See in: genome view
Overlapping variant regions from other studies: 278 SVs from 25 studies. See in: genome view
Overlapping variant regions from other studies: 9 SVs from 4 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5421799 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 48,962,858 (-30, +29) | 48,964,282 (-62, +29) | ||
| nsv5421799 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000023.10 | ChrX | 48,820,119 (-30, +29) | 48,821,543 (-62, +29) |
| nsv5421799 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_004070880.2 | ChrX|NW_00 4070880.2 | 1,202,287 (-30, +29) | 1,203,711 (-62, +29) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17736885 | duplication | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17736885 | Submitted genomic | NC_000023.11:g.(48 962828_48962887)_( 48964220_48964311) dup | GRCh38 (hg38) | NC_000023.11 | ChrX | 48,962,858 (-30, +29) | 48,964,282 (-62, +29) | ||
| nssv17736885 | Remapped | Perfect | NW_004070880.2:g.( 1202257_1202316)_( 1203649_1203740)du p | GRCh37.p13 | First Pass | NW_004070880.2 | ChrX|NW_00 4070880.2 | 1,202,287 (-30, +29) | 1,203,711 (-62, +29) |
| nssv17736885 | Remapped | Perfect | NC_000023.10:g.(48 820089_48820148)_( 48821481_48821572) dup | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 48,820,119 (-30, +29) | 48,821,543 (-62, +29) |
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) |
|---|---|---|---|
| nssv17736885 | <0.001 | 2 | 6404 |