A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5775n100



Internal ID22791862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:108291492..108348749hg38UCSC Ensembl
chr5:107627193..107684450hg19UCSC Ensembl
chr5:107655092..107712349hg18UCSC Ensembl
Cytoband5q21.3
Allele length
AssemblyAllele length
hg3857258
hg1957258
hg1857258
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1018396, nsv1019657, nsv1032608, nsv1025828, nsv1030202
Samples
Known GenesFBXL17
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv5775n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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