nsv5487207
- 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:88
- 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: 398 SVs from 42 studies. See in: genome view
Overlapping variant regions from other studies: 330 SVs from 40 studies. See in: genome view
Overlapping variant regions from other studies: 119 SVs from 20 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5487207 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000008.11 | Chr8 | 143,981,256 | 143,981,343 | ||
| nsv5487207 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000008.10 | Chr8 | 145,055,424 | 145,055,511 |
| nsv5487207 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003315923.1 | Chr8|NW_00 3315923.1 | 319,901 | 319,988 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17019978 | duplication | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17019978 | Submitted genomic | NC_000008.11:g.143 981256_143981343du p | GRCh38 (hg38) | NC_000008.11 | Chr8 | 143,981,256 | 143,981,343 | ||
| nssv17019978 | Remapped | Perfect | NW_003315923.1:g.3 19901_319988dup | GRCh37.p13 | First Pass | NW_003315923.1 | Chr8|NW_00 3315923.1 | 319,901 | 319,988 |
| nssv17019978 | Remapped | Perfect | NC_000008.10:g.145 055424_145055511du p | GRCh37.p13 | Second Pass | NC_000008.10 | Chr8 | 145,055,424 | 145,055,511 |
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) |
|---|---|---|---|
| nssv17019978 | <0.001 | 2 | 6404 |