nsv6861781
- 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:2,695
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: 188 SVs from 35 studies. See in: genome view
Overlapping variant regions from other studies: 181 SVs from 35 studies. See in: genome view
Overlapping variant regions from other studies: 14 SVs from 10 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6861781 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000008.11 | Chr8 | 142,655,617 | 142,658,311 | ||
| nsv6861781 | Remapped | Good | GRCh37.p13 | Primary Assembly | Second Pass | NC_000008.10 | Chr8 | 143,737,008 | 143,739,725 |
| nsv6861781 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003871066.2 | Chr8|NW_00 3871066.2 | 25,750 | 28,444 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv18551789 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv18551789 | Submitted genomic | NC_000008.11:g.142 655617_142658311de l | GRCh38 (hg38) | NC_000008.11 | Chr8 | 142,655,617 | 142,658,311 | ||
| nssv18551789 | Remapped | Perfect | NW_003871066.2:g.2 5750_28444del | GRCh37.p13 | First Pass | NW_003871066.2 | Chr8|NW_00 3871066.2 | 25,750 | 28,444 |
| nssv18551789 | Remapped | Good | NC_000008.10:g.143 737008_143739725de l | GRCh37.p13 | Second Pass | NC_000008.10 | Chr8 | 143,737,008 | 143,739,725 |
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) |
|---|---|---|---|
| nssv18551789 | 7e-06 | 1 | 276148 |