A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3220376



Internal ID22365086
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:76233940..76236018hg38UCSC Ensembl
chr11:75944984..75947062hg19UCSC Ensembl
Cytoband11q13.5
Allele length
AssemblyAllele length
hg382079
hg192079
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14357945, nssv14357942, nssv14357949, nssv14357944, nssv14357943, nssv14357946, nssv14357950, nssv14357948, nssv14357947
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3220376
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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