A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559570



Internal ID16346979
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:84047629..84177701hg38UCSC Ensembl
Innerchr12:84441408..84571480hg19UCSC Ensembl
Innerchr12:82965539..83095611hg18UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg38130073
hg19130073
hg18130073
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv799370
Samples
Known GenesMIR548T
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559570
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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