A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546180



Internal ID16333589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:47416966..47417275hg38UCSC Ensembl
Innerchr1:47882638..47882947hg19UCSC Ensembl
Innerchr1:47655225..47655534hg18UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg38310
hg19310
hg18310
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv264n54
Supporting Variantsnssv712942
Samples
Known GenesFOXE3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546180
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer