A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4572n100



Internal ID22790659
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:39614801..39725587hg38UCSC Ensembl
chr22:40010806..40121592hg19UCSC Ensembl
chr22:38340752..38451538hg18UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg38110787
hg19110787
hg18110787
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1056681, nsv1061648, nsv1058165, nsv1062994, nsv1060698
Samples
Known GenesCACNA1I
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4572n100
Frequency
Sample Size11257
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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