nsv5493392
- Organism: Homo sapiens
- Study:nstd206 (Byrska-Bishop et al. 2022)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:57
- Publication(s):Byrska-Bishop et al. 2022
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: 208 SVs from 27 studies. See in: genome view
Overlapping variant regions from other studies: 195 SVs from 26 studies. See in: genome view
Overlapping variant regions from other studies: 38 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv5493392 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000008.11 | Chr8 | 143,707,862 | 143,707,918 | ||
| nsv5493392 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000008.10 | Chr8 | 144,790,032 | 144,790,088 |
| nsv5493392 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003315923.1 | Chr8|NW_00 3315923.1 | 46,507 | 46,563 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17019941 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17019941 | Submitted genomic | NC_000008.11:g.143 707862_143707918de l | GRCh38 (hg38) | NC_000008.11 | Chr8 | 143,707,862 | 143,707,918 | ||
| nssv17019941 | Remapped | Perfect | NW_003315923.1:g.4 6507_46563del | GRCh37.p13 | First Pass | NW_003315923.1 | Chr8|NW_00 3315923.1 | 46,507 | 46,563 |
| nssv17019941 | Remapped | Perfect | NC_000008.10:g.144 790032_144790088de l | GRCh37.p13 | Second Pass | NC_000008.10 | Chr8 | 144,790,032 | 144,790,088 |
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) |
|---|---|---|---|
| nssv17019941 | <0.001 | 1 | 6404 |