A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557796



Internal ID16345205
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:25113269..25153524hg38UCSC Ensembl
Innerchr12:25266203..25306458hg19UCSC Ensembl
Innerchr12:25157470..25197725hg18UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg3840256
hg1940256
hg1840256
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv789866
Samples
Known GenesCASC1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557796
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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