A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3283887



Internal ID22382243
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:76718893..76718945hg38UCSC Ensembl
chr11:76429937..76429989hg19UCSC Ensembl
Cytoband11q13.5
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14443401
SamplesHG00733
Known GenesGUCY2EP
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)nsv3283887
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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