A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557825



Internal ID16345234
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:27776841..27780611hg38UCSC Ensembl
Innerchr12:27929774..27933544hg19UCSC Ensembl
Innerchr12:27821041..27824811hg18UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg383771
hg193771
hg183771
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2421n54
Supporting Variantsnssv789969
Samples
Known GenesKLHL42
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557825
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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