A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv571481



Internal ID16012204
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:12732928..12786589hg38UCSC Ensembl
Innerchr16:12826785..12880446hg19UCSC Ensembl
Innerchr16:12734286..12787947hg18UCSC Ensembl
Cytoband16p13.12
Allele length
AssemblyAllele length
hg3853662
hg1953662
hg1853662
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4911n54
Supporting Variantsnssv852546
Samples
Known GenesCPPED1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv571481
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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