A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5853n100



Internal ID20157469
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:180945156..181019378hg38UCSC Ensembl
chr5:180372156..180446378hg19UCSC Ensembl
chr5:180304762..180378984hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3874223
hg1974223
hg1874223
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1017475, nsv1029664, nsv1018122, nsv1027833, nsv1026060, nsv1026900, nsv1018074, nsv1030589
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)dgv5853n100
Frequency
Sample Size29084
Observed Gain118
Observed Loss23
Observed Complex0
Frequencyn/a


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