A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599124



Internal ID16386533
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:99188098..99262771hg38UCSC Ensembl
Innerchr5:98523802..98598475hg19UCSC Ensembl
Innerchr5:98551702..98626375hg18UCSC Ensembl
Cytoband5q21.1
Allele length
AssemblyAllele length
hg3874674
hg1974674
hg1874674
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1039543
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599124
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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