A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5381n152



Internal ID22821084
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:63445632..63445694hg38UCSC Ensembl
chr20:62076985..62077047hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3201458, nsv3209277
SamplesNA19240, HG00514
Known GenesKCNQ2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv5381n152
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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