A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546185



Internal ID16333594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:47416969..47417347hg38UCSC Ensembl
Innerchr1:47882641..47883019hg19UCSC Ensembl
Innerchr1:47655228..47655606hg18UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg38379
hg19379
hg18379
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv264n54
Supporting Variantsnssv712952, nssv712951, nssv712953
Samples
Known GenesFOXE3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546185
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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