A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593254



Internal ID16033977
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:1086705..1087464hg38UCSC Ensembl
Innerchr4:1080493..1081252hg19UCSC Ensembl
Innerchr4:1070493..1071252hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38760
hg19760
hg18760
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8887n54
Supporting Variantsnssv987587, nssv987586
Samples
Known GenesRNF212
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv593254
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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