A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1015381



Internal ID19104598
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:60382598..60476658hg38UCSC Ensembl
Innerchr5:59678425..59772485hg19UCSC Ensembl
Innerchr5:59714182..59808242hg18UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg3894061
hg1994061
hg1894061
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5685n100
Supporting Variantsnssv3640709
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)nsv1015381
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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