A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546179



Internal ID16333588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:47416856..47417352hg38UCSC Ensembl
Innerchr1:47882528..47883024hg19UCSC Ensembl
Innerchr1:47655115..47655611hg18UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg38497
hg19497
hg18497
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv263n54
Supporting Variantsnssv712937, nssv712941, nssv712938, nssv712940, nssv712939, nssv712936
Samples
Known GenesFOXE3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546179
Frequency
Sample Size17421
Observed Gain2
Observed Loss4
Observed Complex0
Frequencyn/a


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