A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5808n100



Internal ID20157424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:130705748..131180675hg38UCSC Ensembl
chr5:130041441..130516368hg19UCSC Ensembl
chr5:130069340..130544267hg18UCSC Ensembl
Cytoband5q23.3
Allele length
AssemblyAllele length
hg38474928
hg19474928
hg18474928
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1029435, nsv1027003
Samples
Known GenesHINT1, LYRM7
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv5808n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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