A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2690n100



Internal ID20154306
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:10765..207261hg38UCSC Ensembl
chr16:60765..257260hg19UCSC Ensembl
chr16:765..197261hg18UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38196497
hg19196496
hg18196497
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1038800, nsv1054851, nsv1050276
Samples
Known GenesDDX11L10, HBA1, HBA2, HBM, HBQ1, HBZ, LOC100288778, LUC7L, 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)dgv2690n100
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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