A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546181



Internal ID16333590
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:47416966..47417336hg38UCSC Ensembl
Innerchr1:47882638..47883008hg19UCSC Ensembl
Innerchr1:47655225..47655595hg18UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg38371
hg19371
hg18371
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv264n54
Supporting Variantsnssv712943, nssv712944
Samples
Known GenesFOXE3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546181
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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