A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14265809



Internal ID22203377
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:4092043..4108587hg38UCSC Ensembl
Outerchr20:4072690..4089234hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg383120
hg193120
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3249069
Supporting Variants
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14265809
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer