A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3223412



Internal ID22367189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:83041613..83066798hg38UCSC Ensembl
Outerchr5:82337432..82362617hg19UCSC Ensembl
Cytoband5q14.2
Allele length
AssemblyAllele length
hg383335
hg193335
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14276259, nssv14276257, nssv14276258, nssv14276256, nssv14276261, nssv14276260, nssv14276262, nssv14276263
SamplesNA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesSCARNA18, TMEM167A
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3223412
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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