A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv600278



Internal ID16041001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:171418055..171471294hg38UCSC Ensembl
Innerchr5:170845059..170898298hg19UCSC Ensembl
Innerchr5:170777664..170830903hg18UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg3853240
hg1953240
hg1853240
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1045477
Samples
Known GenesFGF18
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv600278
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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