nsv3168015
- 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:77,403,893
- 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: 180082 SVs from 145 studies. See in: genome view
Overlapping variant regions from other studies: 179545 SVs from 145 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3168015 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 80,242,201 (-178, +178) | 157,646,093 (-178, +178) |
| nsv3168015 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 80,951,918 (-178, +178) | 158,067,125 (-178, +178) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14239543 | duplication | DB51 | Sequencing | Paired-end mapping | 89 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14239543 | Remapped | Good | NC_000006.12:g.(80 242023_80242379)_( 157645915_15764627 1)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 80,242,201 (-178, +178) | 157,646,093 (-178, +178) |
| nssv14239543 | Submitted genomic | NC_000006.11:g.(80 951740_80952096)_( 158066947_15806730 3)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 80,951,918 (-178, +178) | 158,067,125 (-178, +178) |