A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14265856



Internal ID22260043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:17868215..17899505hg38UCSC Ensembl
Outerchr20:17848859..17880149hg19UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg386058
hg196058
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3241673
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14265856
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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