A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4484n100



Internal ID22790571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:20928403..20948062hg38UCSC Ensembl
chr22:21282691..21302350hg19UCSC Ensembl
chr22:19612691..19632350hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3819660
hg1919660
hg1819660
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1056672, nsv1062768
Samples
Known GenesCRKL
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4484n100
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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