A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1125533



Internal ID19268546
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:111358334..111358455hg38UCSC Ensembl
Outerchr11:111229059..111229180hg19UCSC Ensembl
Cytoband11q23.1
Allele length
AssemblyAllele length
hg38122
hg19122
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3983713, nssv3961039
SamplesKWS2, KWS1
Known GenesPOU2AF1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1125533
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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