A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4573n100



Internal ID22790660
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:39617211..39674927hg38UCSC Ensembl
chr22:40013216..40070932hg19UCSC Ensembl
chr22:38343162..38400878hg18UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg3857717
hg1957717
hg1857717
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1061395, nsv1060892
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)dgv4573n100
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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