A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2689n100



Internal ID20154305
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:10765..151390hg38UCSC Ensembl
chr16:60765..201389hg19UCSC Ensembl
chr16:765..141389hg18UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38140626
hg19140625
hg18140625
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1046712, nsv1037982, nsv1037494
Samples
Known GenesDDX11L10, LOC100288778, MIR6859-1, MIR6859-2, MPG, NPRL3, POLR3K, RHBDF1, SNRNP25
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv2689n100
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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