A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4489n100



Internal ID22790576
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:21367302..21490993hg38UCSC Ensembl
chr22:21721591..21845282hg19UCSC Ensembl
chr22:20051591..20175282hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38123692
hg19123692
hg18123692
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1060854, nsv1060299, nsv1060539, nsv1061282, nsv1056227, nsv1061738
Samples
Known GenesHIC2, PI4KAP2, RIMBP3B, RIMBP3C, TMEM191C
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4489n100
Frequency
Sample Size11257
Observed Gain138
Observed Loss0
Observed Complex0
Frequencyn/a


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