A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3235172



Internal ID22373222
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:63424453..63501350hg38UCSC Ensembl
Outerchr20:62055806..62132703hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg385345
hg195345
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14266508, nssv14266509, nssv14266510
SamplesNA19239, NA19240, HG00733
Known GenesEEF1A2, KCNQ2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3235172
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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