A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14259980



Internal ID22201614
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:56737936..56764930hg38UCSC Ensembl
Outerchr16:56771848..56798842hg19UCSC Ensembl
Cytoband16q13
Allele length
AssemblyAllele length
hg38580
hg19580
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3244149
Supporting Variants
SamplesHG00732
Known GenesNUP93
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14259980
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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