A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593242



Internal ID16033965
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:1086569..1093477hg38UCSC Ensembl
Innerchr4:1080357..1087265hg19UCSC Ensembl
Innerchr4:1070357..1077265hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg386909
hg196909
hg186909
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8881n54
Supporting Variantsnssv987502
Samples
Known GenesRNF212
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv593242
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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