A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3241634



Internal ID22375022
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:64084092..64140934hg38UCSC Ensembl
Outerchr20:62715445..62772287hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg383018
hg193018
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14267527, nssv14267529, nssv14267524, nssv14267528, nssv14267525, nssv14267526, nssv14267530
SamplesHG00512, NA19238, NA19239, HG00731, NA19240, HG00513
Known GenesC20orf201, NPBWR2, OPRL1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3241634
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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