A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv563316



Internal ID16004039
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:113261171..113347907hg38UCSC Ensembl
Innerchr13:113915485..114002222hg19UCSC Ensembl
Innerchr13:112963486..113050223hg18UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg3886737
hg1986738
hg1886738
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv820519
Samples
Known GenesCUL4A, GRTP1, LAMP1, MIR8075
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv563316
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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