A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4008958



Internal ID22070589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:21394047..21415628hg38UCSC Ensembl
Outerchr12:21392422..21425337hg38UCSC Ensembl
Innerchr12:21546981..21568562hg19UCSC Ensembl
Outerchr12:21545356..21578271hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg3832916
hg1932916
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1154817
Supporting Variants
Samples
Known GenesSLCO1A2
MethodSNP array
AnalysisDefault settings
Platform
Comments
ReferenceLou_et_al_2014
Pubmed ID25026903
Accession Number(s)nssv4008958
Frequency
Sample Size131
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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