A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3237138



Internal ID22373804
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:62981683..63071212hg38UCSC Ensembl
Outerchr20:61613035..61702564hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg382907
hg192907
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14266506, nssv14266505, nssv14266504, nssv14266507
SamplesNA19239, HG00732, HG00513, HG00514
Known GenesBHLHE23, LINC00029, LINC01056, LOC63930
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3237138
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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