nsv5324812
- 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:116,339
- 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: 1680 SVs from 106 studies. See in: genome view
Overlapping variant regions from other studies: 212 SVs from 16 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5324812 | Submitted genomic | GRCh38.p13 | Primary Assembly | NC_000019.10 | Chr19 | 54,220,648 (-486, +9) | 54,336,986 (-10, +400) | ||
| nsv5324812 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_004166865.1 | Chr19|NW_0 04166865.1 | 195,015 (-486, +9) | 311,353 (-10, +400) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16749002 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv16749002 | Submitted genomic | NC_000019.10:g.(54 220162_54220657)_( 54336976_54337386) dup | GRCh38.p13 | NC_000019.10 | Chr19 | 54,220,648 (-486, +9) | 54,336,986 (-10, +400) | ||
| nssv16749002 | Remapped | Perfect | NW_004166865.1:g.( 194529_195024)_(31 1343_311753)dup | GRCh37.p13 | First Pass | NW_004166865.1 | Chr19|NW_0 04166865.1 | 195,015 (-486, +9) | 311,353 (-10, +400) |
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) |
|---|---|
| nssv16749002 | <0.001 |