A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14361333



Internal ID22319201
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:118499447..118499577hg38UCSC Ensembl
chr11:118370162..118370292hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg38131
hg19131
Variant TypeCNV duplication
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3527536
Supporting Variants
SamplesNA19240
Known GenesKMT2A
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14361333
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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