A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559571



Internal ID16346980
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:84076572..84303354hg38UCSC Ensembl
Innerchr12:84470351..84697133hg19UCSC Ensembl
Innerchr12:82994482..83221264hg18UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg38226783
hg19226783
hg18226783
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2746n54
Supporting Variantsnssv799371
Samples
Known GenesMIR548T
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559571
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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