A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5855n100



Internal ID20157471
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:180945156..181064462hg38UCSC Ensembl
chr5:180372156..180491462hg19UCSC Ensembl
chr5:180304762..180424068hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38119307
hg19119307
hg18119307
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1025286, nsv1016534, nsv1016892, nsv1027556, nsv1028724, nsv1028553, nsv1022737, nsv1034901
Samples
Known GenesBTNL3, BTNL8, 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)dgv5855n100
Frequency
Sample Size29084
Observed Gain12
Observed Loss0
Observed Complex0
Frequencyn/a


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