A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3238733



Internal ID22374241
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:63419311..63424453hg38UCSC Ensembl
Outerchr20:62050664..62055806hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38951
hg19951
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14268109
SamplesHG00731
Known GenesKCNQ2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3238733
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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