A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560164



Internal ID16000887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:111034274..111034977hg38UCSC Ensembl
Innerchr12:111472078..111472781hg19UCSC Ensembl
Innerchr12:109956461..109957164hg18UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg38704
hg19704
hg18704
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2864n54
Supporting Variantsnssv802018, nssv802017, nssv802019
Samples
Known GenesCUX2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560164
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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