A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2688n100



Internal ID20154304
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:10765..80854hg38UCSC Ensembl
chr16:60765..130853hg19UCSC Ensembl
chr16:765..70853hg18UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3870090
hg1970089
hg1870089
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1041006, nsv1038937, nsv1050193, nsv1043694, nsv1045745
Samples
Known GenesDDX11L10, LOC100288778, MIR6859-1, MIR6859-2, MPG, 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)dgv2688n100
Frequency
Sample Size29084
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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