A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1059454



Internal ID18801985
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:27139937..27679877hg38UCSC Ensembl
Innerchr16:27151258..27691198hg19UCSC Ensembl
Innerchr16:27058759..27598699hg18UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg38539941
hg19539941
hg18539941
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3549136
Samples
Known GenesFLJ21408, GTF3C1, IL21R, IL21R-AS1, IL4R, KDM8, KIAA0556, NSMCE1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1059454
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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