A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560114



Internal ID16347523
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:108631656..108635557hg38UCSC Ensembl
Innerchr12:109025432..109029333hg19UCSC Ensembl
Innerchr12:107549561..107553462hg18UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg383902
hg193902
hg183902
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv801933
Samples
Known GenesSELPLG
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560114
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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