nsv7012764
- 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:194,500
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: 1030 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 584 SVs from 66 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv7012764 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000019.10 | Chr19 | 19,972,452 | 20,166,951 | ||
| nsv7012764 | Remapped | Pass | GRCh37.p13 | Primary Assembly | First Pass | NC_000019.9 | Chr19 | 20,083,261 | 20,193,556 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv18637232 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv18637232 | Submitted genomic | NC_000019.10:g.199 72452_20166951dup | GRCh38 (hg38) | NC_000019.10 | Chr19 | 19,972,452 | 20,166,951 | ||
| nssv18637232 | Remapped | Pass | NC_000019.9:g.2008 3261_20193556dup | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 20,083,261 | 20,193,556 |
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) |
|---|---|---|---|
| nssv18637232 | 4e-06 | 1 | 275054 |