A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv520497



Internal ID15101104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:36299896..36570195hg38UCSC Ensembl
Innerchr22:36695942..36966242hg19UCSC Ensembl
Innerchr22:35025888..35296188hg18UCSC Ensembl
Innerchr22:35020442..35290742hg17UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg38270300
hg19270301
hg18270301
hg17270301
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv697455
Samples
Known GenesCACNG2, EIF3D, FOXRED2, MYH9, TXN2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv520497
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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