A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1055831



Internal ID18798362
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:43878234..43932651hg38UCSC Ensembl
Innerchr22:44274114..44328531hg19UCSC Ensembl
Innerchr22:42605447..42659864hg18UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg3854418
hg1954418
hg1854418
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3592242
Samples
Known GenesPNPLA3, PNPLA5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1055831
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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