A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3245704



Internal ID22376219
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:35731686..35745486hg38UCSC Ensembl
Outerchr22:36127733..36141533hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg386061
hg196061
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14268596, nssv14268599, nssv14268598, nssv14268600, nssv14268601, nssv14268597
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, HG00513
Known GenesRBFOX2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3245704
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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