nsv3168819
- 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:120,706
- 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: 371 SVs from 61 studies. See in: genome view
Overlapping variant regions from other studies: 371 SVs from 61 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3168819 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 84,107,355 (-242, +242) | 84,228,060 (-242, +242) |
| nsv3168819 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 84,334,479 (-242, +242) | 84,455,184 (-242, +242) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14239502 | duplication | DB95 | Sequencing | Paired-end mapping | 30 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14239502 | Remapped | Perfect | NC_000002.12:g.(84 107113_84107597)_( 84227818_84228302) dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 84,107,355 (-242, +242) | 84,228,060 (-242, +242) |
| nssv14239502 | Submitted genomic | NC_000002.11:g.(84 334237_84334721)_( 84454942_84455426) dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 84,334,479 (-242, +242) | 84,455,184 (-242, +242) |