A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5833n100



Internal ID20157449
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:175932998..176245085hg38UCSC Ensembl
chr5:175360001..175672088hg19UCSC Ensembl
chr5:175292607..175604694hg18UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg38312088
hg19312088
hg18312088
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1024519, nsv1019621, nsv1029221, nsv1025133, nsv1023760, nsv1023314, nsv1034320, nsv1019871, nsv1020668, nsv1018628, nsv1023776, nsv1016825, nsv1030945, nsv1026178, nsv1031660, nsv1029925, nsv1033507, nsv1015356
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)dgv5833n100
Frequency
Sample Size29084
Observed Gain37
Observed Loss0
Observed Complex0
Frequencyn/a


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