nsv6517239
- 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:7,078
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: 124 SVs from 21 studies. See in: genome view
Overlapping variant regions from other studies: 121 SVs from 21 studies. See in: genome view
Overlapping variant regions from other studies: 14 SVs from 11 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6517239 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000017.11 | Chr17 | 64,520,837 | 64,527,914 | ||
| nsv6517239 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000017.10 | Chr17 | 62,516,955 | 62,524,032 |
| nsv6517239 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003315947.1 | Chr17|NW_0 03315947.1 | 324,684 | 331,761 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv18037791 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18037791 | Submitted genomic | NC_000017.11:g.645 20837_64527914del | GRCh38 (hg38) | NC_000017.11 | Chr17 | 64,520,837 | 64,527,914 | ||
| nssv18037791 | Remapped | Perfect | NW_003315947.1:g.3 24684_331761del | GRCh37.p13 | First Pass | NW_003315947.1 | Chr17|NW_0 03315947.1 | 324,684 | 331,761 |
| nssv18037791 | Remapped | Perfect | NC_000017.10:g.625 16955_62524032del | GRCh37.p13 | Second Pass | NC_000017.10 | Chr17 | 62,516,955 | 62,524,032 |
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) |
|---|---|---|---|
| nssv18037791 | <0.001 | 1 | 39256 |