nsv5953626
- 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:50
- 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: 284 SVs from 36 studies. See in: genome view
Overlapping variant regions from other studies: 284 SVs from 36 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5953626 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000022.11 | Chr22 | 46,414,495 | 46,414,544 | ||
| nsv5953626 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000022.10 | Chr22 | 46,810,392 | 46,810,441 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17399402 | duplication | Sequencing | Sequence alignment |
| nssv17404244 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17399402 | Submitted genomic | NC_000022.11:g.464 14495_46414544dup | GRCh38 (hg38) | NC_000022.11 | Chr22 | 46,414,495 | 46,414,544 | ||
| nssv17404244 | Submitted genomic | NC_000022.11:g.464 14495_46414544del | GRCh38 (hg38) | NC_000022.11 | Chr22 | 46,414,495 | 46,414,544 | ||
| nssv17399402 | Remapped | Perfect | NC_000022.10:g.468 10392_46810441dup | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 46,810,392 | 46,810,441 |
| nssv17404244 | Remapped | Perfect | NC_000022.10:g.468 10392_46810441del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 46,810,392 | 46,810,441 |
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) |
|---|---|---|---|
| nssv17399402 | 1 | 104 | 104 |