A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4529n100



Internal ID20156145
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:23568559..23651171hg38UCSC Ensembl
chr22:23910746..23993358hg19UCSC Ensembl
chr22:22240746..22323358hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg3882613
hg1982613
hg1882613
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1060616, nsv1063298
Samples
Known GenesC22orf43, GUSBP11, IGLL1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4529n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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