A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599193



Internal ID16386602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:102890143..102988062hg38UCSC Ensembl
Innerchr5:102225847..102323766hg19UCSC Ensembl
Innerchr5:102253746..102351665hg18UCSC Ensembl
Cytoband5q21.1
Allele length
AssemblyAllele length
hg3897920
hg1997920
hg1897920
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1039632
Samples
Known GenesPAM
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599193
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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