A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5247n152



Internal ID22820950
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:33747323..33747644hg38UCSC Ensembl
chr20:32335129..32335450hg19UCSC Ensembl
Cytoband20q11.22
Allele length
AssemblyAllele length
hg38322
hg19322
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3181942, nsv3521511
SamplesNA19238, NA19239, NA19240
Known GenesZNF341
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)dgv5247n152
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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