nsv5313509
- 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:1,487
- 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: 278 SVs from 33 studies. See in: genome view
Overlapping variant regions from other studies: 278 SVs from 33 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5313509 | Submitted genomic | GRCh38.p13 | Primary Assembly | NC_000016.10 | Chr16 | 88,652,759 (-10, +9) | 88,654,245 (-7, +9) | ||
| nsv5313509 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000016.9 | Chr16 | 88,719,167 (-10, +9) | 88,720,653 (-7, +9) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16755272 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv16755272 | Submitted genomic | NC_000016.10:g.(88 652749_88652768)_( 88654238_88654254) del | GRCh38.p13 | NC_000016.10 | Chr16 | 88,652,759 (-10, +9) | 88,654,245 (-7, +9) | ||
| nssv16755272 | Remapped | Perfect | NC_000016.9:g.(887 19157_88719176)_(8 8720646_88720662)d el | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 88,719,167 (-10, +9) | 88,720,653 (-7, +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) |
|---|---|
| nssv16755272 | <0.001 |