A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546189



Internal ID15986912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:47417089..47417352hg38UCSC Ensembl
Innerchr1:47882761..47883024hg19UCSC Ensembl
Innerchr1:47655348..47655611hg18UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg38264
hg19264
hg18264
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv712959, nssv712958, nssv712961, nssv712960
Samples
Known GenesFOXE3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546189
Frequency
Sample Size17421
Observed Gain1
Observed Loss3
Observed Complex0
Frequencyn/a


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