A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3294591



Internal ID22388296
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:18052962..18053122hg38UCSC Ensembl
chr22:18535728..18535888hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38161
hg19161
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5670n152
Supporting Variantsnssv14458882
SamplesHG00733
Known Genes
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)nsv3294591
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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