A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1024648



Internal ID18767180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:119272480..119342573hg38UCSC Ensembl
Innerchr5:118608175..118678268hg19UCSC Ensembl
Innerchr5:118636074..118706167hg18UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg3870094
hg1970094
hg1870094
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3647975
Samples
Known GenesTNFAIP8
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1024648
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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