A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559467



Internal ID16346876
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:81174094..81243799hg38UCSC Ensembl
Innerchr12:81567873..81637578hg19UCSC Ensembl
Innerchr12:80092004..80161709hg18UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg3869706
hg1969706
hg1869706
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv798921
Samples
Known GenesACSS3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559467
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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