nsv5325400
- Organism: Homo sapiens
- Study:nstd204 (Chen et al. 2021)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:525
- Publication(s):Chen et al. 2021
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: 145 SVs from 37 studies. See in: genome view
Overlapping variant regions from other studies: 24 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv5325400 | Submitted genomic | GRCh38.p13 | Primary Assembly | NC_000019.10 | Chr19 | 54,339,307 (-30, +264) | 54,339,831 (-251, +9) | ||
| nsv5325400 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_004166865.1 | Chr19|NW_0 04166865.1 | 313,674 (-30, +264) | 314,198 (-251, +9) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16761599 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv16761599 | Submitted genomic | NC_000019.10:g.(54 339277_54339571)_( 54339580_54339840) del | GRCh38.p13 | NC_000019.10 | Chr19 | 54,339,307 (-30, +264) | 54,339,831 (-251, +9) | ||
| nssv16761599 | Remapped | Perfect | NW_004166865.1:g.( 313644_313938)_(31 3947_314207)del | GRCh37.p13 | First Pass | NW_004166865.1 | Chr19|NW_0 04166865.1 | 313,674 (-30, +264) | 314,198 (-251, +9) |
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) |
|---|---|
| nssv16761599 | <0.001 |