A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14259991



Internal ID22201621
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:72956421..72958071hg38UCSC Ensembl
Outerchr16:72990320..72991970hg19UCSC Ensembl
Cytoband16q22.3
Allele length
AssemblyAllele length
hg3822939
hg1922939
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3234441
Supporting Variants
SamplesHG00732
Known GenesZFHX3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14259991
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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