A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3553331



Internal ID22422213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:64012554..64012554hg38UCSC Ensembl
chr20:62643907..62643907hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38118
hg19118
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14422544, nssv14449555
SamplesHG00733, HG00514
Known GenesPRPF6
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)nsv3553331
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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