A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv513215



Internal ID15852637
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:2861129..2863467hg38UCSC Ensembl
Outerchr5:2861243..2863581hg19UCSC Ensembl
Outerchr5:2914243..2916581hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg382339
hg192339
hg182339
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv626717
Samples1
Known Genes
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv513215
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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