A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3243828



Internal ID22375686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:116992037..117007053hg38UCSC Ensembl
Outerchr11:116862753..116877769hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg386060
hg196060
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14254988, nssv14254989
SamplesHG00732, HG00733
Known GenesSIK3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3243828
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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