A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv555712



Internal ID16343121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:87250952..87295988hg38UCSC Ensembl
Innerchr11:86961994..87007030hg19UCSC Ensembl
Innerchr11:86639642..86684678hg18UCSC Ensembl
Cytoband11q14.2
Allele length
AssemblyAllele length
hg3845037
hg1945037
hg1845037
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2057n54
Supporting Variantsnssv780244
Samples
Known GenesTMEM135
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv555712
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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