A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3086n152



Internal ID22818789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:845823..957730hg38UCSC Ensembl
chr16:895823..1007730hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38111908
hg19111908
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3245331, nsv3247715
SamplesHG00512, NA19238, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesLMF1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv3086n152
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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