A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1124643



Internal ID18930692
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:74758855..74762355hg38UCSC Ensembl
Outerchr11:74469900..74473400hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg383501
hg193501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3976698
SamplesKWS2
Known GenesRNF169
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1124643
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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