A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3235991



Internal ID22373458
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:64084092..64112026hg38UCSC Ensembl
Outerchr20:62715445..62743379hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg384015
hg194015
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14267026, nssv14267024, nssv14267027, nssv14267025
SamplesHG00732, NA19240, HG00733, HG00514
Known GenesC20orf201, NPBWR2, OPRL1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3235991
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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