A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2705n100



Internal ID20154321
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:6606773..6649354hg38UCSC Ensembl
chr16:6656774..6699355hg19UCSC Ensembl
chr16:6596775..6639356hg18UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg3842582
hg1942582
hg1842582
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1052211, nsv1049830
Samples
Known GenesRBFOX1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv2705n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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