A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559761



Internal ID16000484
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:92112364..92145844hg38UCSC Ensembl
Innerchr12:92506140..92539620hg19UCSC Ensembl
Innerchr12:91030271..91063751hg18UCSC Ensembl
Cytoband12q21.33
Allele length
AssemblyAllele length
hg3833481
hg1933481
hg1833481
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv800486
Samples
Known GenesBTG1, C12orf79
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559761
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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