A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599566



Internal ID16386975
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:119362888..119367088hg38UCSC Ensembl
Innerchr5:118698583..118702783hg19UCSC Ensembl
Innerchr5:118726482..118730682hg18UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg384201
hg194201
hg184201
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10045n54
Supporting Variantsnssv1040903, nssv1040902, nssv1040904
Samples
Known GenesTNFAIP8
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599566
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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