A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3238453



Internal ID22374155
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:63066380..63070392hg38UCSC Ensembl
Outerchr20:61697732..61701744hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg381030
hg191030
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14267020, nssv14267019, nssv14267018
SamplesNA19240, HG00733, HG00514
Known GenesLOC63930
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3238453
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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