nsv7088048
- Organism: Homo sapiens
- Study:nstd229 (Jun et al. 2023)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:40,993
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: 406 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 404 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 51 SVs from 16 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv7088048 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 49,609,430 | 49,650,422 | ||
| nsv7088048 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000023.10 | ChrX | 49,374,033 | 49,415,025 |
| nsv7088048 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_004070880.2 | ChrX|NW_00 4070880.2 | 1,798,859 | 1,839,851 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv18656319 | duplication | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv18656319 | Submitted genomic | NC_000023.11:g.496 09430_49650422dup | GRCh38 (hg38) | NC_000023.11 | ChrX | 49,609,430 | 49,650,422 | ||
| nssv18656319 | Remapped | Perfect | NW_004070880.2:g.1 798859_1839851dup | GRCh37.p13 | First Pass | NW_004070880.2 | ChrX|NW_00 4070880.2 | 1,798,859 | 1,839,851 |
| nssv18656319 | Remapped | Perfect | NC_000023.10:g.493 74033_49415025dup | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 49,374,033 | 49,415,025 |
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) |
|---|---|---|---|
| nssv18656319 | 5e-06 | 1 | 200000 |