A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5851n100



Internal ID20157467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:180932733..181021171hg38UCSC Ensembl
chr5:180359733..180448171hg19UCSC Ensembl
chr5:180292339..180380777hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3888439
hg1988439
hg1888439
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1026762, nsv1015204, nsv1019467, nsv1028549, nsv1023609
Samples
Known GenesBTNL3, BTNL8
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv5851n100
Frequency
Sample Size29084
Observed Gain12
Observed Loss0
Observed Complex0
Frequencyn/a


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