A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3296241



Internal ID22388521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:50609933..50610059hg38UCSC Ensembl
chr20:49226470..49226596hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg38127
hg19127
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5299n152
Supporting Variantsnssv14408885
SamplesNA19240
Known GenesFAM65C
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences at least 70% masked by tandem repeat finder or contained within a tandem repeat
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3296241
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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