nsv5483274
- 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:74
- 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: 393 SVs from 46 studies. See in: genome view
Overlapping variant regions from other studies: 422 SVs from 46 studies. See in: genome view
Overlapping variant regions from other studies: 54 SVs from 18 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5483274 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000008.11 | Chr8 | 144,426,503 | 144,426,576 | ||
| nsv5483274 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000008.10 | Chr8 | 145,651,886 | 145,651,959 |
| nsv5483274 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003315924.1 | Chr8|NW_00 3315924.1 | 195,762 | 195,835 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17019330 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17019330 | Submitted genomic | NC_000008.11:g.144 426503_144426576de l | GRCh38 (hg38) | NC_000008.11 | Chr8 | 144,426,503 | 144,426,576 | ||
| nssv17019330 | Remapped | Perfect | NW_003315924.1:g.1 95762_195835del | GRCh37.p13 | First Pass | NW_003315924.1 | Chr8|NW_00 3315924.1 | 195,762 | 195,835 |
| nssv17019330 | Remapped | Perfect | NC_000008.10:g.145 651886_145651959de l | GRCh37.p13 | Second Pass | NC_000008.10 | Chr8 | 145,651,886 | 145,651,959 |
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) |
|---|---|---|---|
| nssv17019330 | 0.007 | 42 | 6400 |