nsv3168856
- 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:141,107
- 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: 828 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 828 SVs from 79 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3168856 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 189,972,888 (-285, +285) | 190,113,994 (-285, +285) |
| nsv3168856 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 189,690,677 (-285, +285) | 189,831,783 (-285, +285) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14239548 | duplication | DB73 | Sequencing | Paired-end mapping | 31 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14239548 | Remapped | Perfect | NC_000003.12:g.(18 9972603_189973173) _(190113709_190114 279)dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 189,972,888 (-285, +285) | 190,113,994 (-285, +285) |
| nssv14239548 | Submitted genomic | NC_000003.11:g.(18 9690392_189690962) _(189831498_189832 068)dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 189,690,677 (-285, +285) | 189,831,783 (-285, +285) |