A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14259366



Internal ID22309122
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:68082771..68111339hg38UCSC Ensembl
Outerchr16:68116674..68145242hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg383151
hg193151
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3239772
Supporting Variants
SamplesNA19240
Known GenesNFATC3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14259366
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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