nsv5492281
- 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:262
- 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: 282 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 277 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 70 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv5492281 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000008.11 | Chr8 | 144,042,949 | 144,043,210 | ||
| nsv5492281 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000008.10 | Chr8 | 145,097,850 | 145,098,111 |
| nsv5492281 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003315923.1 | Chr8|NW_00 3315923.1 | 381,594 | 381,855 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17020007 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17020007 | Submitted genomic | NC_000008.11:g.144 042949_144043210de l | GRCh38 (hg38) | NC_000008.11 | Chr8 | 144,042,949 | 144,043,210 | ||
| nssv17020007 | Remapped | Perfect | NW_003315923.1:g.3 81594_381855del | GRCh37.p13 | First Pass | NW_003315923.1 | Chr8|NW_00 3315923.1 | 381,594 | 381,855 |
| nssv17020007 | Remapped | Perfect | NC_000008.10:g.145 097850_145098111de l | GRCh37.p13 | Second Pass | NC_000008.10 | Chr8 | 145,097,850 | 145,098,111 |
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) |
|---|---|---|---|
| nssv17020007 | <0.001 | 1 | 6404 |