A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593258



Internal ID16033981
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:1086763..1087258hg38UCSC Ensembl
Innerchr4:1080551..1081046hg19UCSC Ensembl
Innerchr4:1070551..1071046hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38496
hg19496
hg18496
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8886n54
Supporting Variantsnssv987624
Samples
Known GenesRNF212
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv593258
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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