A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4018113



Internal ID22079744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:179504310..179612187hg38UCSC Ensembl
Outerchr5:179501760..179612561hg38UCSC Ensembl
Innerchr5:178931311..179039188hg19UCSC Ensembl
Outerchr5:178928761..179039562hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38110802
hg19110802
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1156420
Supporting Variants
Samples
Known GenesRUFY1
MethodSNP array
AnalysisDefault settings
Platform
Comments
ReferenceLou_et_al_2014
Pubmed ID25026903
Accession Number(s)nssv4018113
Frequency
Sample Size131
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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