A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559454



Internal ID16346863
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:80239313..80337260hg38UCSC Ensembl
Innerchr12:80633093..80731040hg19UCSC Ensembl
Innerchr12:79157224..79255171hg18UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg3897948
hg1997948
hg1897948
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv798905, nssv798906
Samples
Known GenesOTOGL
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559454
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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