A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560165



Internal ID16000888
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:111034274..111035030hg38UCSC Ensembl
Innerchr12:111472078..111472834hg19UCSC Ensembl
Innerchr12:109956461..109957217hg18UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg38757
hg19757
hg18757
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2863n54
Supporting Variantsnssv802020, nssv802021
Samples
Known GenesCUX2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560165
Frequency
Sample Size17421
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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