nsv5490826
- 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:537
- 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: 169 SVs from 27 studies. See in: genome view
Overlapping variant regions from other studies: 162 SVs from 26 studies. See in: genome view
Overlapping variant regions from other studies: 9 SVs from 8 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5490826 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000008.11 | Chr8 | 142,700,640 (-22, +20) | 142,701,176 (-20, +20) | ||
| nsv5490826 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000008.10 | Chr8 | 143,782,058 (-22, +20) | 143,782,594 (-20, +20) |
| nsv5490826 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003871066.2 | Chr8|NW_00 3871066.2 | 70,773 (-22, +20) | 71,309 (-20, +20) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17018385 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17018385 | Submitted genomic | NC_000008.11:g.(14 2700618_142700660) _(142701156_142701 196)del | GRCh38 (hg38) | NC_000008.11 | Chr8 | 142,700,640 (-22, +20) | 142,701,176 (-20, +20) | ||
| nssv17018385 | Remapped | Perfect | NW_003871066.2:g.( 70751_70793)_(7128 9_71329)del | GRCh37.p13 | First Pass | NW_003871066.2 | Chr8|NW_00 3871066.2 | 70,773 (-22, +20) | 71,309 (-20, +20) |
| nssv17018385 | Remapped | Perfect | NC_000008.10:g.(14 3782036_143782078) _(143782574_143782 614)del | GRCh37.p13 | Second Pass | NC_000008.10 | Chr8 | 143,782,058 (-22, +20) | 143,782,594 (-20, +20) |
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) |
|---|---|---|---|
| nssv17018385 | 0.001 | 8 | 6404 |