A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5832n100



Internal ID20157448
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:175916529..176315860hg38UCSC Ensembl
chr5:175343532..175742863hg19UCSC Ensembl
chr5:175276138..175675469hg18UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg38399332
hg19399332
hg18399332
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1035104, nsv1020635, nsv1028199, nsv1034634
Samples
Known GenesFAM153B, LOC100507387, LOC100996385, LOC643201, SIMC1, THOC3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv5832n100
Frequency
Sample Size29084
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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