A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559572



Internal ID16346981
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:84076572..84322985hg38UCSC Ensembl
Innerchr12:84470351..84716764hg19UCSC Ensembl
Innerchr12:82994482..83240895hg18UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg38246414
hg19246414
hg18246414
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2746n54
Supporting Variantsnssv799372
Samples
Known GenesMIR548T
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559572
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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