nsv6869462
- Organism: Homo sapiens
- Study:nstd229 (Jun et al. 2023)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:2,577
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: 241 SVs from 34 studies. See in: genome view
Overlapping variant regions from other studies: 236 SVs from 33 studies. See in: genome view
Overlapping variant regions from other studies: 44 SVs from 14 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6869462 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000008.11 | Chr8 | 143,874,617 | 143,877,193 | ||
| nsv6869462 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000008.10 | Chr8 | 144,948,785 | 144,951,361 |
| nsv6869462 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003315923.1 | Chr8|NW_00 3315923.1 | 213,262 | 215,838 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv18553187 | deletion | Sequencing | Split read and paired-end mapping |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18553187 | Submitted genomic | NC_000008.11:g.143 874617_143877193de l | GRCh38 (hg38) | NC_000008.11 | Chr8 | 143,874,617 | 143,877,193 | ||
| nssv18553187 | Remapped | Perfect | NW_003315923.1:g.2 13262_215838del | GRCh37.p13 | First Pass | NW_003315923.1 | Chr8|NW_00 3315923.1 | 213,262 | 215,838 |
| nssv18553187 | Remapped | Perfect | NC_000008.10:g.144 948785_144951361de l | GRCh37.p13 | Second Pass | NC_000008.10 | Chr8 | 144,948,785 | 144,951,361 |
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) |
|---|---|---|---|
| nssv18553187 | 4e-06 | 1 | 276070 |