A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1024789



Internal ID19114006
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 StatusM
Merged Variants
Supporting Variantsnssv3648113
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)nsv1024789
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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