A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5856n100



Internal ID22791943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:180951876..181044823hg38UCSC Ensembl
chr5:180378876..180471823hg19UCSC Ensembl
chr5:180311482..180404429hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3892948
hg1992948
hg1892948
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1028587, nsv1015914, nsv1025651
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)dgv5856n100
Frequency
Sample Size11257
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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