A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559747



Internal ID16347156
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:90730778..90793554hg38UCSC Ensembl
Innerchr12:91124555..91187331hg19UCSC Ensembl
Innerchr12:89648686..89711462hg18UCSC Ensembl
Cytoband12q21.33
Allele length
AssemblyAllele length
hg3862777
hg1962777
hg1862777
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1175730
SamplesHGDP01191
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559747
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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