A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3262n152



Internal ID22818965
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:66789291..66789625hg38UCSC Ensembl
chr16:66823194..66823528hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg38335
hg19335
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3523833, nsv3180933
SamplesNA19238, NA19239, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesCCDC79
MethodMerging
Sequencing
AnalysisMultiple analysis algorthms
PhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformIllumina HiSeq
See merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv3262n152
Frequency
Sample Size9
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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