A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560167



Internal ID16000890
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:111034401..111038564hg38UCSC Ensembl
Innerchr12:111472205..111476368hg19UCSC Ensembl
Innerchr12:109956588..109960751hg18UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg384164
hg194164
hg184164
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2865n54
Supporting Variantsnssv802023
Samples
Known GenesCUX2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560167
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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