A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4556n100



Internal ID22790643
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:25349937..25526368hg38UCSC Ensembl
chr22:25745904..25922335hg19UCSC Ensembl
chr22:24075904..24252335hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38176432
hg19176432
hg18176432
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1061153, nsv1061167
Samples
Known GenesCRYBB2P1, LRP5L, MIR6817
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4556n100
Frequency
Sample Size11257
Observed Gain4
Observed Loss2
Observed Complex0
Frequencyn/a


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