A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511279



Internal ID15850704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:164238403..164239283hg38UCSC Ensembl
Outerchr5:164226993..164246277hg38UCSC Ensembl
Innerchr5:163665409..163666289hg19UCSC Ensembl
Outerchr5:163653999..163673283hg19UCSC Ensembl
Innerchr5:163597987..163598867hg18UCSC Ensembl
Outerchr5:163586577..163605861hg18UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg3819285
hg1919285
hg1819285
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv624999
Samples1
Known Genes
MethodSNP array
AnalysisAnalysis of HGMDFN090 by Illumina HumanOmni1 Quad SNP array
PlatformGPL8882
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv511279
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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