A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv555711



Internal ID16343120
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:87249474..87290850hg38UCSC Ensembl
Innerchr11:86960516..87001892hg19UCSC Ensembl
Innerchr11:86638164..86679540hg18UCSC Ensembl
Cytoband11q14.2
Allele length
AssemblyAllele length
hg3841377
hg1941377
hg1841377
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2057n54
Supporting Variantsnssv780242, nssv780243
Samples
Known GenesTMEM135
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv555711
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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