nsv5327168
- 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:249
- 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: 125 SVs from 36 studies. See in: genome view
Overlapping variant regions from other studies: 125 SVs from 36 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5327168 | Submitted genomic | GRCh38.p13 | Primary Assembly | NC_000019.10 | Chr19 | 47,832,006 (-30, +139) | 47,832,254 (-214, +29) | ||
| nsv5327168 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000019.9 | Chr19 | 48,335,263 (-30, +139) | 48,335,511 (-214, +29) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16759368 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv16759368 | Submitted genomic | NC_000019.10:g.(47 831976_47832145)_( 47832040_47832283) del | GRCh38.p13 | NC_000019.10 | Chr19 | 47,832,006 (-30, +139) | 47,832,254 (-214, +29) | ||
| nssv16759368 | Remapped | Perfect | NC_000019.9:g.(483 35233_48335402)_(4 8335297_48335540)d el | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 48,335,263 (-30, +139) | 48,335,511 (-214, +29) |
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) |
|---|---|
| nssv16759368 | <0.001 |