A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546178



Internal ID16333587
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:47416856..47417347hg38UCSC Ensembl
Innerchr1:47882528..47883019hg19UCSC Ensembl
Innerchr1:47655115..47655606hg18UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg38492
hg19492
hg18492
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv263n54
Supporting Variantsnssv712927, nssv712932, nssv712934, nssv712923, nssv712929, nssv712935, nssv712928, nssv712922, nssv712924, nssv712933, nssv712926, nssv712931, nssv712930, nssv712925
Samples
Known GenesFOXE3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546178
Frequency
Sample Size17421
Observed Gain13
Observed Loss1
Observed Complex0
Frequencyn/a


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