A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3587572



Internal ID18885853
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:54618177..55038576hg38UCSC Ensembl
Innerchr20:53234716..53655115hg19UCSC Ensembl
Innerchr20:52668123..53088522hg18UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg38420400
hg19420400
hg18420400
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1060552
Supporting Variants
Samples
Known GenesDOK5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3587572
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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