A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1032308



Internal ID19121530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:59016641..59075412hg38UCSC Ensembl
Innerchr5:58312468..58371239hg19UCSC Ensembl
Innerchr5:58348225..58406996hg18UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg3858772
hg1958772
hg1858772
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3640693
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)nsv1032308
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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