A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3214683



Internal ID22361266
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:76718943..76719046hg38UCSC Ensembl
chr11:76429987..76430090hg19UCSC Ensembl
Cytoband11q13.5
Allele length
AssemblyAllele length
hg38104
hg19104
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14357957, nssv14357956, nssv14357958
SamplesHG00732, HG00733, HG00513
Known GenesGUCY2EP
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3214683
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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