A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5521n100



Internal ID22791608
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:568570..685633hg38UCSC Ensembl
chr5:568685..685748hg19UCSC Ensembl
chr5:621685..738748hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38117064
hg19117064
hg18117064
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1018985, nsv1016713, nsv1019372, nsv1021785, nsv1029837
Samples
Known GenesCEP72, LOC100996325, TPPP
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv5521n100
Frequency
Sample Size11257
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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