A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1059671



Internal ID19148890
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:45799700..45846850hg38UCSC Ensembl
Innerchr22:46195580..46242730hg19UCSC Ensembl
Innerchr22:44574244..44621394hg18UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg3847151
hg1947151
hg1847151
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3592262
Samples
Known GenesATXN10
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1059671
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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