A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3648113



Internal ID18946394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:131459862..131571724hg38UCSC Ensembl
Innerchr5:130795555..130907417hg19UCSC Ensembl
Innerchr5:130823454..130935316hg18UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg38111863
hg19111863
hg18111863
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1024789
Supporting Variants
Samples
Known GenesRAPGEF6
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3648113
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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