A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv558790



Internal ID15999513
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:48135385..48146105hg38UCSC Ensembl
Innerchr12:48529168..48539888hg19UCSC Ensembl
Innerchr12:46815435..46826155hg18UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg3810721
hg1910721
hg1810721
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv795298
Samples
Known GenesPFKM
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv558790
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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