A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4530n100



Internal ID20156146
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:23579240..23637032hg38UCSC Ensembl
chr22:23921427..23979219hg19UCSC Ensembl
chr22:22251427..22309219hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg3857793
hg1957793
hg1857793
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1064644, nsv1061928, nsv1062012
Samples
Known GenesC22orf43, IGLL1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4530n100
Frequency
Sample Size29084
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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