A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1596n152



Internal ID22817299
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:119506215..119512923hg38UCSC Ensembl
chr11:119376926..119383634hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg386709
hg196709
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3233042, nsv3233868
SamplesHG00512, NA19238, NA19239, HG00731, NA19240, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv1596n152
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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