nsv3168202
- 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:263,312
- 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: 928 SVs from 67 studies. See in: genome view
Overlapping variant regions from other studies: 928 SVs from 67 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv3168202 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 127,453,063 (-5, +5) | 127,716,374 (-5, +5) |
nsv3168202 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 129,251,327 (-5, +5) | 129,514,638 (-5, +5) |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv14239689 | duplication | DB103 | Sequencing | Paired-end mapping | 8 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv14239689 | Remapped | Perfect | NC_000010.11:g.(12 7453058_127453068) _(127716369_127716 379)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 127,453,063 (-5, +5) | 127,716,374 (-5, +5) |
nssv14239689 | Submitted genomic | NC_000010.10:g.(12 9251322_129251332) _(129514633_129514 643)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 129,251,327 (-5, +5) | 129,514,638 (-5, +5) |