A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593270



Internal ID16033993
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:1086972..1087517hg38UCSC Ensembl
Innerchr4:1080760..1081305hg19UCSC Ensembl
Innerchr4:1070760..1071305hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38546
hg19546
hg18546
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8888n54
Supporting Variantsnssv987644
Samples
Known GenesRNF212
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv593270
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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