A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3213811



Internal ID22360635
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:54480991..54481094hg38UCSC Ensembl
chr20:53097530..53097633hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg38104
hg19104
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5307n152
Supporting Variantsnssv14464179
SamplesHG00733
Known GenesDOK5
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3213811
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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