A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3523402



Internal ID18821683
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:42800502..42903595hg38UCSC Ensembl
Innerchr13:43374638..43477731hg19UCSC Ensembl
Innerchr13:42272638..42375731hg18UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38103094
hg19103094
hg18103094
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1042237
Supporting Variants
Samples
Known GenesEPSTI1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3523402
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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