nsv6787963
- 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:8,826
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: 92 SVs from 21 studies. See in: genome view
Overlapping variant regions from other studies: 89 SVs from 20 studies. See in: genome view
Overlapping variant regions from other studies: 13 SVs from 7 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6787963 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000005.10 | Chr5 | 140,925,569 | 140,934,394 | ||
| nsv6787963 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000005.9 | Chr5 | 140,305,154 | 140,313,979 |
| nsv6787963 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_004775428.1 | Chr5|NW_00 4775428.1 | 160,745 | 169,570 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv18509079 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv18509079 | Submitted genomic | NC_000005.10:g.140 925569_140934394de l | GRCh38 (hg38) | NC_000005.10 | Chr5 | 140,925,569 | 140,934,394 | ||
| nssv18509079 | Remapped | Perfect | NW_004775428.1:g.1 60745_169570del | GRCh37.p13 | First Pass | NW_004775428.1 | Chr5|NW_00 4775428.1 | 160,745 | 169,570 |
| nssv18509079 | Remapped | Perfect | NC_000005.9:g.1403 05154_140313979del | GRCh37.p13 | Second Pass | NC_000005.9 | Chr5 | 140,305,154 | 140,313,979 |
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) |
|---|---|---|---|
| nssv18509079 | 7e-06 | 2 | 275540 |