A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4002212



Internal ID18847258
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:81803294..81809395hg38UCSC Ensembl
Outerchr16:81836899..81843000hg19UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg386102
hg196102
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1153558
Supporting Variants
SamplesKWB1
Known GenesPLCG2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4002212
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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