nsv6526282
- Organism: Homo sapiens
- Study:nstd223 (Sedlazeck 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:4,255
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: 118 SVs from 20 studies. See in: genome view
Overlapping variant regions from other studies: 115 SVs from 20 studies. See in: genome view
Overlapping variant regions from other studies: 13 SVs from 10 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6526282 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000017.11 | Chr17 | 64,524,172 | 64,528,426 | ||
| nsv6526282 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000017.10 | Chr17 | 62,520,290 | 62,524,544 |
| nsv6526282 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003315947.1 | Chr17|NW_0 03315947.1 | 328,019 | 332,273 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv18037792 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18037792 | Submitted genomic | NC_000017.11:g.645 24172_64528426del | GRCh38 (hg38) | NC_000017.11 | Chr17 | 64,524,172 | 64,528,426 | ||
| nssv18037792 | Remapped | Perfect | NW_003315947.1:g.3 28019_332273del | GRCh37.p13 | First Pass | NW_003315947.1 | Chr17|NW_0 03315947.1 | 328,019 | 332,273 |
| nssv18037792 | Remapped | Perfect | NC_000017.10:g.625 20290_62524544del | GRCh37.p13 | Second Pass | NC_000017.10 | Chr17 | 62,520,290 | 62,524,544 |
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) |
|---|---|---|---|
| nssv18037792 | <0.001 | 1 | 39270 |