A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4493n100



Internal ID19014861
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:21917856..22086088hg38UCSC Ensembl
chr22:22272229..22440499hg19UCSC Ensembl
chr22:20602229..20770499hg18UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38168233
hg19168271
hg18168271
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1065751, nsv1056132
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)dgv4493n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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