A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2946n100



Internal ID22789033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:33724141..34208804hg38UCSC Ensembl
chr16:33526608..34011271hg19UCSC Ensembl
chr16:33434109..33918772hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38484664
hg19484664
hg18484664
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1066871, nsv1063500, nsv1056975, nsv1061765
Samples
Known GenesLINC00273, RNU6-76P
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv2946n100
Frequency
Sample Size11257
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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