A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3232284



Internal ID22372465
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:61808152..61828628hg38UCSC Ensembl
Outerchr20:60383208..60403684hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38943
hg19943
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14266487, nssv14266488, nssv14266486, nssv14266490, nssv14266491, nssv14266489, nssv14266492
SamplesHG00512, NA19239, HG00731, HG00732, NA19240, HG00733, HG00514
Known GenesCDH4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3232284
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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