A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv556144



Internal ID16343553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:102433650..102436612hg38UCSC Ensembl
Innerchr11:102304381..102307343hg19UCSC Ensembl
Innerchr11:101809591..101812553hg18UCSC Ensembl
Cytoband11q22.2
Allele length
AssemblyAllele length
hg382963
hg192963
hg182963
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2134n54
Supporting Variantsnssv782010, nssv782011
Samples
Known GenesTMEM123
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv556144
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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