A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3228n152



Internal ID22818931
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:56397704..56397990hg38UCSC Ensembl
chr16:56431616..56431902hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg38287
hg19287
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3283207, nsv3288612
SamplesNA19240, HG00733
Known GenesAMFR
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv3228n152
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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