nsv7079936
- 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:26,200
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: 315 SVs from 34 studies. See in: genome view
Overlapping variant regions from other studies: 312 SVs from 34 studies. See in: genome view
Overlapping variant regions from other studies: 32 SVs from 19 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv7079936 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 154,527,301 | 154,553,500 | ||
| nsv7079936 | Remapped | Good | GRCh37.p13 | Primary Assembly | Second Pass | NC_000023.10 | ChrX | 153,755,515 | 153,781,715 |
| nsv7079936 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003871103.3 | ChrX|NW_00 3871103.3 | 1,961,280 | 1,987,479 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv18656812 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv18656812 | Submitted genomic | NC_000023.11:g.154 527301_154553500du p | GRCh38 (hg38) | NC_000023.11 | ChrX | 154,527,301 | 154,553,500 | ||
| nssv18656812 | Remapped | Perfect | NW_003871103.3:g.1 961280_1987479dup | GRCh37.p13 | First Pass | NW_003871103.3 | ChrX|NW_00 3871103.3 | 1,961,280 | 1,987,479 |
| nssv18656812 | Remapped | Good | NC_000023.10:g.153 755515_153781715du p | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 153,755,515 | 153,781,715 |
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) |
|---|---|---|---|
| nssv18656812 | 5e-06 | 1 | 200000 |