A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3555469



Internal ID22424312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:20458469..20458469hg38UCSC Ensembl
chr20:20439113..20439113hg19UCSC Ensembl
Cytoband20p11.23
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14394782
SamplesNA19240
Known GenesRALGAPA2
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)nsv3555469
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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