A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1027418



Internal ID18769950
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:115870559..116111164hg38UCSC Ensembl
Innerchr5:115206256..115446861hg19UCSC Ensembl
Innerchr5:115234155..115474760hg18UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg38240606
hg19240606
hg18240606
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5789n100
Supporting Variantsnssv3647087
Samples
Known GenesAP3S1, AQPEP, ARL14EPL, COMMD10
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1027418
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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