A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3284718



Internal ID22383085
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:167859432..167859834hg38UCSC Ensembl
chr5:167286437..167286839hg19UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg38403
hg19403
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14410940
SamplesNA19240
Known GenesTENM2
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)nsv3284718
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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