A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1043653



Internal ID19132872
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:105563288..105758175hg38UCSC Ensembl
Innerchr14:106029625..106224512hg19UCSC Ensembl
Innerchr14:105100670..105295557hg18UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg38194888
hg19194888
hg18194888
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1983n100
Supporting Variantsnssv3529827, nssv3529828
Samples
Known GenesELK2AP, MIR8071-1, MIR8071-2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1043653
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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