A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1029784



Internal ID19119003
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:51340..183286hg38UCSC Ensembl
Innerchr5:51455..183401hg19UCSC Ensembl
Innerchr5:104455..236401hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38131947
hg19131947
hg18131947
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5515n100
Supporting Variantsnssv3633204
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)nsv1029784
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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