A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1055586



Internal ID19144805
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:45709197..45744593hg38UCSC Ensembl
Innerchr22:46105077..46140473hg19UCSC Ensembl
Innerchr22:44483741..44519137hg18UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg3835397
hg1935397
hg1835397
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4588n100
Supporting Variantsnssv3592258, nssv3592259, nssv3592257
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)nsv1055586
Frequency
Sample Size11257
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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