A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv600280



Internal ID16041003
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:171448172..171514968hg38UCSC Ensembl
Innerchr5:170875176..170941972hg19UCSC Ensembl
Innerchr5:170807781..170874577hg18UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg3866797
hg1966797
hg1866797
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1045479
Samples
Known GenesFGF18
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv600280
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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