A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1066280



Internal ID18808811
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:31385143..31440746hg38UCSC Ensembl
Innerchr16:31396464..31452067hg19UCSC Ensembl
Innerchr16:31303965..31359568hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3855604
hg1955604
hg1855604
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3716186
Samples
Known GenesCOX6A2, ITGAD, ZNF843
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1066280
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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