A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3236070



Internal ID22373473
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:63465172..63501350hg38UCSC Ensembl
Outerchr20:62096525..62132703hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg381959
hg191959
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14267500, nssv14267008, nssv14267006, nssv14267003, nssv14267007, nssv14267004, nssv14267501, nssv14267005, nssv14267009
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesEEF1A2, KCNQ2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3236070
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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