A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv558841



Internal ID16346250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:50399063..50462830hg38UCSC Ensembl
Innerchr12:50792846..50856613hg19UCSC Ensembl
Innerchr12:49079113..49142880hg18UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg3863768
hg1963768
hg1863768
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1176303
SamplesHGDP00915
Known GenesLARP4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv558841
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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