A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3292818



Internal ID22388053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:58643937..58643989hg38UCSC Ensembl
chr20:57218993..57219045hg19UCSC Ensembl
Cytoband20q13.32
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14433930
SamplesHG00514
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)nsv3292818
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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