nsv5328879
- 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:19,812
- 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: 1208 SVs from 96 studies. See in: genome view
Overlapping variant regions from other studies: 80 SVs from 12 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5328879 | Submitted genomic | GRCh38.p13 | Primary Assembly | NC_000019.10 | Chr19 | 54,219,953 (-339, +9) | 54,239,764 (-10, +227) | ||
| nsv5328879 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_004166865.1 | Chr19|NW_0 04166865.1 | 194,320 (-339, +9) | 214,131 (-10, +227) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16747522 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv16747522 | Submitted genomic | NC_000019.10:g.(54 219614_54219962)_( 54239754_54239991) dup | GRCh38.p13 | NC_000019.10 | Chr19 | 54,219,953 (-339, +9) | 54,239,764 (-10, +227) | ||
| nssv16747522 | Remapped | Perfect | NW_004166865.1:g.( 193981_194329)_(21 4121_214358)dup | GRCh37.p13 | First Pass | NW_004166865.1 | Chr19|NW_0 04166865.1 | 194,320 (-339, +9) | 214,131 (-10, +227) |
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) |
|---|---|
| nssv16747522 | <0.001 |