A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv983493



Internal ID18272001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:111512399..111520777hg38UCSC Ensembl
Innerchr12:111950203..111958581hg19UCSC Ensembl
Innerchr12:110434586..110442964hg18UCSC Ensembl
Cytoband12q24.12
Allele length
AssemblyAllele length
hg388379
hg198379
hg188379
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2757270
SamplesHGDP00998
Known GenesATXN2
MethodSequencing
AnalysisHuman CNVs
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv983493
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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