A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5605n100



Internal ID22791692
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:21451079..21733222hg38UCSC Ensembl
chr5:21451188..21733331hg19UCSC Ensembl
chr5:21486945..21769088hg18UCSC Ensembl
Cytoband5p14.3
Allele length
AssemblyAllele length
hg38282144
hg19282144
hg18282144
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1030408, nsv1024977
Samples
Known GenesGUSBP1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv5605n100
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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