A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2838n100



Internal ID20154454
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:31960187..33086089hg38UCSC Ensembl
chr16:31971508..33097410hg19UCSC Ensembl
chr16:31879009..33004911hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg381125903
hg191125903
hg181125903
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1056990, nsv1064268, nsv1058069, nsv1063872, nsv1060799, nsv1058855, nsv1065693, nsv1066252, nsv1065186, nsv1062667
Samples
Known GenesHERC2P4, LOC390705, SLC6A10P, TP53TG3, TP53TG3B, TP53TG3C, TP53TG3D
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv2838n100
Frequency
Sample Size29084
Observed Gain14
Observed Loss0
Observed Complex0
Frequencyn/a


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