A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599565



Internal ID16386974
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:119326187..119356193hg38UCSC Ensembl
Innerchr5:118661882..118691888hg19UCSC Ensembl
Innerchr5:118689781..118719787hg18UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg3830007
hg1930007
hg1830007
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1040901
Samples
Known GenesTNFAIP8
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599565
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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