nsv6878543
- 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:2,428
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: 160 SVs from 27 studies. See in: genome view
Overlapping variant regions from other studies: 160 SVs from 27 studies. See in: genome view
Overlapping variant regions from other studies: 21 SVs from 8 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6878543 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000009.12 | Chr9 | 133,398,902 | 133,401,329 | ||
| nsv6878543 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000009.11 | Chr9 | 136,264,031 | 136,266,458 |
| nsv6878543 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003315925.1 | Chr9|NW_00 3315925.1 | 224,996 | 227,423 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv18565761 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv18565761 | Submitted genomic | NC_000009.12:g.133 398902_133401329de l | GRCh38 (hg38) | NC_000009.12 | Chr9 | 133,398,902 | 133,401,329 | ||
| nssv18565761 | Remapped | Perfect | NW_003315925.1:g.2 24996_227423del | GRCh37.p13 | First Pass | NW_003315925.1 | Chr9|NW_00 3315925.1 | 224,996 | 227,423 |
| nssv18565761 | Remapped | Perfect | NC_000009.11:g.136 264031_136266458de l | GRCh37.p13 | Second Pass | NC_000009.11 | Chr9 | 136,264,031 | 136,266,458 |
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) |
|---|---|---|---|
| nssv18565761 | 4e-06 | 1 | 275234 |