A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5517n100



Internal ID20157133
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:19572..164078hg38UCSC Ensembl
chr5:19572..164193hg19UCSC Ensembl
chr5:72572..217193hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38144507
hg19144622
hg18144622
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1032835, nsv1027305, nsv1020140
Samples
Known GenesPLEKHG4B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv5517n100
Frequency
Sample Size29084
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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