A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3553712



Internal ID22422589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:45224551..45224551hg38UCSC Ensembl
chr21:46644466..46644466hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38845
hg19845
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14449693
SamplesHG00733
Known GenesADARB1
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)nsv3553712
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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