nsv3168892
- Organism: Homo sapiens
- Study:nstd158 (Cleal et al. 2019)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:164,567
- Publication(s):Cleal et al. 2019
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: 434 SVs from 63 studies. See in: genome view
Overlapping variant regions from other studies: 434 SVs from 63 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv3168892 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 114,559,334 (-3, +3) | 114,723,900 (-3, +3) |
nsv3168892 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 114,278,181 (-3, +3) | 114,442,747 (-3, +3) |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv14239554 | duplication | DB106 | Sequencing | Paired-end mapping | 27 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv14239554 | Remapped | Perfect | NC_000003.12:g.(11 4559331_114559337) _(114723897_114723 903)dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 114,559,334 (-3, +3) | 114,723,900 (-3, +3) |
nssv14239554 | Submitted genomic | NC_000003.11:g.(11 4278178_114278184) _(114442744_114442 750)dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 114,278,181 (-3, +3) | 114,442,747 (-3, +3) |