A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511300



Internal ID15850725
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:99009478..99010810hg38UCSC Ensembl
Outerchr5:99008818..99011066hg38UCSC Ensembl
Innerchr5:98345182..98346514hg19UCSC Ensembl
Outerchr5:98344522..98346770hg19UCSC Ensembl
Innerchr5:98373082..98374414hg18UCSC Ensembl
Outerchr5:98372422..98374670hg18UCSC Ensembl
Cytoband5q21.1
Allele length
AssemblyAllele length
hg382249
hg192249
hg182249
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv49n50
Supporting Variantsnssv625232
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)nsv511300
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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