A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5838n100



Internal ID22791925
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:176043309..176269841hg38UCSC Ensembl
chr5:175470312..175696844hg19UCSC Ensembl
chr5:175402918..175629450hg18UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg38226533
hg19226533
hg18226533
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1021103, nsv1026910, nsv1034190, nsv1020766
Samples
Known GenesFAM153B, LOC100507387, LOC100996385, LOC643201, SIMC1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv5838n100
Frequency
Sample Size11257
Observed Gain11
Observed Loss0
Observed Complex0
Frequencyn/a


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