A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593255



Internal ID16033978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:1086705..1087517hg38UCSC Ensembl
Innerchr4:1080493..1081305hg19UCSC Ensembl
Innerchr4:1070493..1071305hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38813
hg19813
hg18813
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8883n54
Supporting Variantsnssv987590, nssv987591, nssv987588, nssv987592, nssv987589
Samples
Known GenesRNF212
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv593255
Frequency
Sample Size17421
Observed Gain4
Observed Loss1
Observed Complex0
Frequencyn/a


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