A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1027171



Internal ID19116390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:59972132..60044698hg38UCSC Ensembl
Innerchr5:59267959..59340525hg19UCSC Ensembl
Innerchr5:59303716..59376282hg18UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg3872567
hg1972567
hg1872567
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3640708
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)nsv1027171
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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