A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593273



Internal ID16033996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:1095282..1096697hg38UCSC Ensembl
Innerchr4:1089070..1090485hg19UCSC Ensembl
Innerchr4:1079070..1080485hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg381416
hg191416
hg181416
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv987656, nssv987657
Samples
Known GenesRNF212
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv593273
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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