A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3592256



Internal ID18890537
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:45709197..45740969hg38UCSC Ensembl
Innerchr22:46105077..46136849hg19UCSC Ensembl
Innerchr22:44483741..44515513hg18UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg3831773
hg1931773
hg1831773
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1061478
Supporting Variants
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)nssv3592256
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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