A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599567



Internal ID16386976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:119363288..119367088hg38UCSC Ensembl
Innerchr5:118698983..118702783hg19UCSC Ensembl
Innerchr5:118726882..118730682hg18UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg383801
hg193801
hg183801
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10045n54
Supporting Variantsnssv1040905
Samples
Known GenesTNFAIP8
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599567
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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