A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1116688



Internal ID18930225
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:133021674..133021740hg38UCSC Ensembl
Outerchr11:132891569..132891635hg19UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg3867
hg1967
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3983718, nssv3961045
SamplesKWS1, KWS2
Known GenesOPCML
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1116688
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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