A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3999360



Internal ID19186957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:177847998..177858499hg38UCSC Ensembl
Outerchr5:177274999..177285500hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3810502
hg1910502
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1146156
Supporting Variants
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3999360
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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