nsv5313924
- 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:9,998
- 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: 242 SVs from 43 studies. See in: genome view
Overlapping variant regions from other studies: 242 SVs from 43 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5313924 | Submitted genomic | GRCh38.p13 | Primary Assembly | NC_000002.12 | Chr2 | 203,316,979 (-125, +484) | 203,326,976 (-494, +115) | ||
| nsv5313924 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 204,181,702 (-125, +484) | 204,191,699 (-494, +115) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16764178 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv16764178 | Submitted genomic | NC_000002.12:g.(20 3316854_203317463) _(203326482_203327 091)del | GRCh38.p13 | NC_000002.12 | Chr2 | 203,316,979 (-125, +484) | 203,326,976 (-494, +115) | ||
| nssv16764178 | Remapped | Perfect | NC_000002.11:g.(20 4181577_204182186) _(204191205_204191 814)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 204,181,702 (-125, +484) | 204,191,699 (-494, +115) |
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) |
|---|---|
| nssv16764178 | 0.014 |