A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4482n100



Internal ID20156098
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:20184066..20280182hg38UCSC Ensembl
chr22:20171589..20267705hg19UCSC Ensembl
chr22:18551589..18647705hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3896117
hg1996117
hg1896117
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1061238, nsv1057426, nsv1061461
Samples
Known GenesLINC00896, LOC284865, MIR1286, RTN4R
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4482n100
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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