A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1133223



Internal ID18911268
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:23875507..23875570hg38UCSC Ensembl
Outerchr16:23886828..23886891hg19UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1324n106
Supporting Variantsnssv3988106
SamplesKWS1
Known GenesPRKCB
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1133223
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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