A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4496n100



Internal ID19014864
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:21943275..22243567hg38UCSC Ensembl
chr22:22297647..22597978hg19UCSC Ensembl
chr22:20627647..20927978hg18UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38300293
hg19300332
hg18300332
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1065598, nsv1056045, nsv1065344, nsv1061639
Samples
Known GenesPPM1F, TOP3B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4496n100
Frequency
Sample Size29084
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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