A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1052603



Internal ID19141822
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:42903152..43174747hg38UCSC Ensembl
Innerchr13:43477288..43748883hg19UCSC Ensembl
Innerchr13:42375288..42646883hg18UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38271596
hg19271596
hg18271596
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1639n100
Supporting Variantsnssv3714972
Samples
Known GenesDNAJC15, EPSTI1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1052603
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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