A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv571333



Internal ID16012056
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:6587112..6631636hg38UCSC Ensembl
Innerchr16:6637113..6681637hg19UCSC Ensembl
Innerchr16:6577114..6621638hg18UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg3844525
hg1944525
hg1844525
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4889n54
Supporting Variantsnssv1148917
SamplesHGDP00787
Known GenesRBFOX1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv571333
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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