A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv555713



Internal ID16343122
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:87260506..87302396hg38UCSC Ensembl
Innerchr11:86971548..87013438hg19UCSC Ensembl
Innerchr11:86649196..86691086hg18UCSC Ensembl
Cytoband11q14.2
Allele length
AssemblyAllele length
hg3841891
hg1941891
hg1841891
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2057n54
Supporting Variantsnssv780246, nssv780245
Samples
Known GenesTMEM135
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv555713
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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