A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3245126



Internal ID22376063
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:96080613..96094805hg38UCSC Ensembl
Outerchr11:95813777..95827969hg19UCSC Ensembl
Cytoband11q21
Allele length
AssemblyAllele length
hg38885
hg19885
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14254737, nssv14254735, nssv14254736
SamplesNA19239, HG00731, NA19240
Known GenesMAML2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3245126
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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