A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3590800



Internal ID18889081
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:39647807..39720561hg38UCSC Ensembl
Innerchr22:40043812..40116566hg19UCSC Ensembl
Innerchr22:38373758..38446512hg18UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg3872755
hg1972755
hg1872755
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1057884
Supporting Variants
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)nssv3590800
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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