A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2712n100



Internal ID19013080
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:6838242..7051376hg38UCSC Ensembl
chr16:6888243..7101377hg19UCSC Ensembl
chr16:6828244..7041378hg18UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg38213135
hg19213135
hg18213135
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1052612, nsv1040718, nsv1048950
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)dgv2712n100
Frequency
Sample Size29084
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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