nsv6712813
- 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:114,875
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: 411 SVs from 63 studies. See in: genome view
Overlapping variant regions from other studies: 395 SVs from 63 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6712813 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000003.12 | Chr3 | 48,419,498 | 48,534,372 | ||
| nsv6712813 | Remapped | Good | GRCh37.p13 | Primary Assembly | First Pass | NC_000003.11 | Chr3 | 48,460,907 | 48,571,805 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv18677149 | duplication | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv18677149 | Submitted genomic | NC_000003.12:g.484 19498_48534372dup | GRCh38 (hg38) | NC_000003.12 | Chr3 | 48,419,498 | 48,534,372 | ||
| nssv18677149 | Remapped | Good | NC_000003.11:g.484 60907_48571805dup | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 48,460,907 | 48,571,805 |
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) |
|---|---|---|---|
| nssv18677149 | 4.8e-05 | 12 | 246712 |