A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5668n100



Internal ID22791755
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:54029100..54467143hg38UCSC Ensembl
chr5:53324930..53762973hg19UCSC Ensembl
chr5:53360687..53798730hg18UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg38438044
hg19438044
hg18438044
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1020517, nsv1032352
Samples
Known GenesARL15, HSPB3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv5668n100
Frequency
Sample Size11257
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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