A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546172



Internal ID15986895
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:47416810..47417347hg38UCSC Ensembl
Innerchr1:47882482..47883019hg19UCSC Ensembl
Innerchr1:47655069..47655606hg18UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg38538
hg19538
hg18538
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv261n54
Supporting Variantsnssv712909, nssv712908
Samples
Known GenesFOXE3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546172
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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