A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3239761



Internal ID22374517
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:104145116..104173050hg38UCSC Ensembl
Outerchr14:104611453..104639387hg19UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg38886
hg19886
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14257973, nssv14257972, nssv14257975, nssv14257974
SamplesNA19238, HG00731, HG00732, HG00733
Known GenesKIF26A
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3239761
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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