A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1034311



Internal ID19123533
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:59897690..59961344hg38UCSC Ensembl
Innerchr5:59193517..59257171hg19UCSC Ensembl
Innerchr5:59229274..59292928hg18UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg3863655
hg1963655
hg1863655
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5684n100
Supporting Variantsnssv3640707
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)nsv1034311
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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