A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3288745



Internal ID22387161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:76718675..76718903hg38UCSC Ensembl
chr11:76429719..76429947hg19UCSC Ensembl
Cytoband11q13.5
Allele length
AssemblyAllele length
hg38229
hg19229
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1473n152
Supporting Variantsnssv14374448
SamplesNA19240
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)nsv3288745
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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