A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3988106



Internal ID18865623
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 StatusS
Merged Variantsnsv1133223
Supporting Variants
SamplesKWS1
Known GenesPRKCB
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3988106
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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