nsv7011975
- 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:311,261
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: 1463 SVs from 75 studies. See in: genome view
Overlapping variant regions from other studies: 956 SVs from 67 studies. See in: genome view
Overlapping variant regions from other studies: 493 SVs from 37 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv7011975 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000019.10 | Chr19 | 19,958,428 | 20,269,688 | ||
| nsv7011975 | Remapped | Pass | GRCh37.p13 | Primary Assembly | Second Pass | NC_000019.9 | Chr19 | 20,193,557 | 20,380,497 |
| nsv7011975 | Remapped | Pass | GRCh37.p13 | PATCHES | First Pass | NW_003571053.2 | Chr19|NW_0 03571053.2 | 1 | 186,941 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv18637230 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv18637230 | Submitted genomic | NC_000019.10:g.199 58428_20269688dup | GRCh38 (hg38) | NC_000019.10 | Chr19 | 19,958,428 | 20,269,688 | ||
| nssv18637230 | Remapped | Pass | NW_003571053.2:g.1 _186941dup | GRCh37.p13 | First Pass | NW_003571053.2 | Chr19|NW_0 03571053.2 | 1 | 186,941 |
| nssv18637230 | Remapped | Pass | NC_000019.9:g.2019 3557_20380497dup | GRCh37.p13 | Second Pass | NC_000019.9 | Chr19 | 20,193,557 | 20,380,497 |
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) |
|---|---|---|---|
| nssv18637230 | 2.9e-05 | 8 | 274252 |