A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv528458



Internal ID15109065
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:43927090..43946236hg38UCSC Ensembl
Innerchr22:44322970..44342116hg19UCSC Ensembl
Innerchr22:42654303..42673449hg18UCSC Ensembl
Innerchr22:42647871..42667017hg17UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg3819147
hg1919147
hg1819147
hg1719147
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv705060
Samples
Known GenesPNPLA3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv528458
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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