A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14259519



Internal ID22278291
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:425215..506468hg38UCSC Ensembl
Outerchr16:475215..556468hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg385226
hg195226
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3235917
Supporting Variants
SamplesNA19239
Known GenesRAB11FIP3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14259519
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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