A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559256



Internal ID16346665
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:70330273..70358952hg38UCSC Ensembl
Innerchr12:70724053..70752732hg19UCSC Ensembl
Innerchr12:69010320..69038999hg18UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg3828680
hg1928680
hg1828680
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv797849, nssv797847, nssv797848
Samples
Known GenesCNOT2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559256
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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