A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14268096



Internal ID22224723
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:2723582..2731320hg38UCSC Ensembl
Outerchr20:2704228..2711966hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg383714
hg193714
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3240604
Supporting Variants
SamplesHG00733
Known GenesEBF4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14268096
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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