A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048734



Internal ID18791265
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:72817765..73069496hg38UCSC Ensembl
Innerchr14:73284473..73536204hg19UCSC Ensembl
Innerchr14:72354226..72605957hg18UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg38251732
hg19251732
hg18251732
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3531129
Samples
Known GenesDCAF4, DPF3, RBM25, ZFYVE1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1048734
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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