A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1033344



Internal ID19122566
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:60414206..60477640hg38UCSC Ensembl
Innerchr5:59710033..59773467hg19UCSC Ensembl
Innerchr5:59745790..59809224hg18UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg3863435
hg1963435
hg1863435
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3640712
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)nsv1033344
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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