nsv5938436
- 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:138,551
- 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: 612 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 606 SVs from 68 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5938436 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000014.9 | Chr14 | 48,882,021 | 49,020,571 | ||
| nsv5938436 | Remapped | Good | GRCh37.p13 | Primary Assembly | First Pass | NC_000014.8 | Chr14 | 49,351,224 | 49,489,775 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17387660 | duplication | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17387660 | Submitted genomic | NC_000014.9:g.4888 2021_49020571dup | GRCh38 (hg38) | NC_000014.9 | Chr14 | 48,882,021 | 49,020,571 | ||
| nssv17387660 | Remapped | Good | NC_000014.8:g.4935 1224_49489775dup | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 49,351,224 | 49,489,775 |
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) |
|---|---|---|---|
| nssv17387660 | 0.106 | 126 | 1186 |