A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5577n100



Internal ID20157193
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:13790651..14187394hg38UCSC Ensembl
chr5:13790760..14187503hg19UCSC Ensembl
chr5:13843760..14240503hg18UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg38396744
hg19396744
hg18396744
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1019196, nsv1020626, nsv1024836, nsv1024037, nsv1015479, nsv1018474, nsv1030787, nsv1020810, nsv1017356
Samples
Known GenesDNAH5, TRIO
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv5577n100
Frequency
Sample Size29084
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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