nsv5904705
- 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: 119 SVs from 23 studies. See in: genome view
Overlapping variant regions from other studies: 119 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv5904705 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000006.12 | Chr6 | 89,128,474 | 89,128,523 | ||
| nsv5904705 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 89,838,193 | 89,838,242 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17447786 | duplication | Sequencing | Sequence alignment |
| nssv17449447 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17447786 | Submitted genomic | NC_000006.12:g.891 28474_89128523dup | GRCh38 (hg38) | NC_000006.12 | Chr6 | 89,128,474 | 89,128,523 | ||
| nssv17449447 | Submitted genomic | NC_000006.12:g.891 28474_89128523del | GRCh38 (hg38) | NC_000006.12 | Chr6 | 89,128,474 | 89,128,523 | ||
| nssv17447786 | Remapped | Perfect | NC_000006.11:g.898 38193_89838242dup | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 89,838,193 | 89,838,242 |
| nssv17449447 | Remapped | Perfect | NC_000006.11:g.898 38193_89838242del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 89,838,193 | 89,838,242 |
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) |
|---|---|---|---|
| nssv17447786 | 1 | 2 | 2 |