A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3235917



Internal ID22373435
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14259512, nssv14259514, nssv14259517, nssv14259513, nssv14259516, nssv14259518, nssv14259515, nssv14259519
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, HG00733, HG00513, HG00514
Known GenesRAB11FIP3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3235917
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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