A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1034331



Internal ID19123553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:60382946..60477640hg38UCSC Ensembl
Innerchr5:59678773..59773467hg19UCSC Ensembl
Innerchr5:59714530..59809224hg18UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg3894695
hg1994695
hg1894695
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5685n100
Supporting Variantsnssv3640710
Samples
Known GenesPDE4D
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1034331
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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