A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4452n100



Internal ID20156068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:15424509..15922838hg38UCSC Ensembl
chr22:16055171..16553454hg19UCSC Ensembl
chr22:14435171..14933454hg18UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg38498330
hg19498284
hg18498284
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1061893, nsv1056175, nsv1061800, nsv1060119
Samples
Known GenesBMS1P17, BMS1P18, OR11H1, POTEH
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4452n100
Frequency
Sample Size29084
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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