A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559539



Internal ID16000262
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:81887018..82502439hg38UCSC Ensembl
Innerchr12:82280797..82896218hg19UCSC Ensembl
Innerchr12:80804928..81420349hg18UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg38615422
hg19615422
hg18615422
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1176312
SamplesHGDP00468
Known GenesCCDC59, METTL25
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559539
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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