A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1018431



Internal ID19107648
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:59895272..59969536hg38UCSC Ensembl
Innerchr5:59191099..59265363hg19UCSC Ensembl
Innerchr5:59226856..59301120hg18UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg3874265
hg1974265
hg1874265
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5684n100
Supporting Variantsnssv3747208
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)nsv1018431
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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