A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv552872



Internal ID15993595
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:812533..843713hg38UCSC Ensembl
Innerchr11:812533..843713hg19UCSC Ensembl
Innerchr11:802533..833713hg18UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg3831181
hg1931181
hg1831181
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1526n54
Supporting Variantsnssv763567
Samples
Known GenesCD151, EFCAB4A, PNPLA2, POLR2L, RPLP2, TSPAN4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv552872
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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