A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv558894



Internal ID16346303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:51821125..51823311hg38UCSC Ensembl
Innerchr12:52214909..52217095hg19UCSC Ensembl
Innerchr12:50501176..50503362hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg382187
hg192187
hg182187
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2628n54
Supporting Variantsnssv795962
Samples
Known GenesFIGNL2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv558894
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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