A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14267253



Internal ID22313644
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:47544935..47564432hg38UCSC Ensembl
Outerchr20:46173679..46193176hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg382479
hg192479
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3248833
Supporting Variants
SamplesNA19240
Known GenesNCOA3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14267253
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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