A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3999180



Internal ID19189279
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:104858862..104862463hg38UCSC Ensembl
Outerchr14:105325199..105328800hg19UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg383602
hg193602
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1152001
Supporting Variants
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3999180
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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