A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546171



Internal ID15986894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:47416810..47417174hg38UCSC Ensembl
Innerchr1:47882482..47882846hg19UCSC Ensembl
Innerchr1:47655069..47655433hg18UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg38365
hg19365
hg18365
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv260n54
Supporting Variantsnssv712907
Samples
Known GenesFOXE3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546171
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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