A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4480n100



Internal ID20156096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:20069620..20262667hg38UCSC Ensembl
chr22:20057143..20250190hg19UCSC Ensembl
chr22:18437143..18630190hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38193048
hg19193048
hg18193048
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1064757, nsv1058048
Samples
Known GenesDGCR8, LINC00896, LOC284865, LOC388849, MIR1286, MIR1306, MIR3618, 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)dgv4480n100
Frequency
Sample Size29084
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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