A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4001234



Internal ID19192863
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:93413053..93419454hg38UCSC Ensembl
Outerchr14:93879399..93885800hg19UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg386402
hg196402
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1153316
Supporting Variants
SamplesKWB1
Known GenesUNC79
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4001234
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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