A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4481n100



Internal ID20156097
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:20114567..20291605hg38UCSC Ensembl
chr22:20102090..20279128hg19UCSC Ensembl
chr22:18482090..18659128hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38177039
hg19177039
hg18177039
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1066715, nsv1060355, nsv1065003, nsv1062334, nsv1067299, nsv1062841, nsv1058133, nsv1056387
Samples
Known GenesLINC00896, LOC284865, LOC388849, MIR1286, MIR6816, RANBP1, RTN4R, TRMT2A, ZDHHC8
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4481n100
Frequency
Sample Size29084
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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