A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv596593



Internal ID16037316
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:38141..141544hg38UCSC Ensembl
Innerchr5:38139..141659hg19UCSC Ensembl
Innerchr5:91139..194659hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38103404
hg19103521
hg18103521
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9471n54
Supporting Variantsnssv1021028
Samples
Known GenesPLEKHG4B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv596593
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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