nsv5947234
- Organism: Homo sapiens
- Study:nstd209 (Almarri et al. 2020)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:495
- 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: 383 SVs from 46 studies. See in: genome view
Overlapping variant regions from other studies: 382 SVs from 46 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5947234 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000014.9 | Chr14 | 104,948,349 | 104,948,843 | ||
| nsv5947234 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000014.8 | Chr14 | 105,414,686 | 105,415,180 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17375275 | duplication | Sequencing | Sequence alignment |
| nssv17384287 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17375275 | Submitted genomic | NC_000014.9:g.1049 48349_104948843dup | GRCh38 (hg38) | NC_000014.9 | Chr14 | 104,948,349 | 104,948,843 | ||
| nssv17384287 | Submitted genomic | NC_000014.9:g.1049 48349_104948843del | GRCh38 (hg38) | NC_000014.9 | Chr14 | 104,948,349 | 104,948,843 | ||
| nssv17375275 | Remapped | Perfect | NC_000014.8:g.1054 14686_105415180dup | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 105,414,686 | 105,415,180 |
| nssv17384287 | Remapped | Perfect | NC_000014.8:g.1054 14686_105415180del | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 105,414,686 | 105,415,180 |
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) |
|---|---|---|---|
| nssv17375275 | 0.013 | 16 | 1204 |