A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1129529



Internal ID18901746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:133027712..133027804hg38UCSC Ensembl
Outerchr11:132897607..132897699hg19UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg3893
hg1993
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3963769
SamplesKWS1
Known GenesOPCML
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1129529
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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