A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv494n21



Internal ID20132215
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:109952819..110202456hg38UCSC Ensembl
chr9:112715099..112964736hg19UCSC Ensembl
chr9:111754920..112004557hg18UCSC Ensembl
chr9:109794654..110044291hg17UCSC Ensembl
Cytoband9q31.3
Allele length
AssemblyAllele length
hg38249638
hg19249638
hg18249638
hg17249638
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv524744, nsv528209
Samples
Known GenesAKAP2, C9orf152, PALM2-AKAP2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)dgv494n21
Frequency
Sample Size2026
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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