A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14268109



Internal ID22187868
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 StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3238733
Supporting Variants
SamplesHG00731
Known GenesKCNQ2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14268109
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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