nsv3168962
- 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:149,967
- 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: 458 SVs from 59 studies. See in: genome view
Overlapping variant regions from other studies: 458 SVs from 59 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv3168962 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 43,887,102 (-1, +1) | 44,037,068 (-1, +1) |
nsv3168962 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 44,352,774 (-1, +1) | 44,502,740 (-1, +1) |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv14239471 | duplication | DB107 | Sequencing | Paired-end mapping | 20 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv14239471 | Remapped | Perfect | NC_000001.11:g.(43 887101_43887103)_( 44037067_44037069) dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 43,887,102 (-1, +1) | 44,037,068 (-1, +1) |
nssv14239471 | Submitted genomic | NC_000001.10:g.(44 352773_44352775)_( 44502739_44502741) dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 44,352,774 (-1, +1) | 44,502,740 (-1, +1) |