A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511293



Internal ID15850718
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:114920876..114925359hg38UCSC Ensembl
Outerchr5:114912690..114944217hg38UCSC Ensembl
Innerchr5:114256573..114261056hg19UCSC Ensembl
Outerchr5:114248387..114279914hg19UCSC Ensembl
Innerchr5:114284472..114288955hg18UCSC Ensembl
Outerchr5:114276286..114307813hg18UCSC Ensembl
Cytoband5q22.3
Allele length
AssemblyAllele length
hg3831528
hg1931528
hg1831528
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625155
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)nsv511293
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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