nsv5936882
- Organism: Homo sapiens
- Study:nstd209 (Almarri et al. 2020)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:80
- Publication(s):Almarri et al. 2020
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: 219 SVs from 23 studies. See in: genome view
Overlapping variant regions from other studies: 219 SVs from 23 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5936882 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000018.10 | Chr18 | 50,924,452 | 50,924,531 | ||
| nsv5936882 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000018.9 | Chr18 | 48,450,822 | 48,450,901 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17385340 | duplication | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17385340 | Submitted genomic | NC_000018.10:g.509 24452_50924531dup | GRCh38 (hg38) | NC_000018.10 | Chr18 | 50,924,452 | 50,924,531 | ||
| nssv17385340 | Remapped | Perfect | NC_000018.9:g.4845 0822_48450901dup | GRCh37.p13 | First Pass | NC_000018.9 | Chr18 | 48,450,822 | 48,450,901 |
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) |
|---|---|---|---|
| nssv17385340 | 0.001 | 2 | 1740 |