A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5858n100



Internal ID22791945
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:181006225..181064462hg38UCSC Ensembl
chr5:180433225..180491462hg19UCSC Ensembl
chr5:180365831..180424068hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3858238
hg1958238
hg1858238
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1029409, nsv1021058, nsv1030111, nsv1016074, nsv1029960, nsv1032576
Samples
Known GenesBTNL3, BTNL9, MIR8089
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv5858n100
Frequency
Sample Size11257
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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