A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511383



Internal ID15504122
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:25209968..25213120hg38UCSC Ensembl
Outerchr8:25204291..25214226hg38UCSC Ensembl
Innerchr8:25067484..25070636hg19UCSC Ensembl
Outerchr8:25061807..25071742hg19UCSC Ensembl
Innerchr8:25123401..25126553hg18UCSC Ensembl
Outerchr8:25117724..25127659hg18UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg389936
hg199936
hg189936
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625990
Samples1
Known GenesDOCK5
MethodSNP array
AnalysisAnalysis of HGMDFN090 by Illumina HumanOmni1 Quad SNP array
PlatformGPL8882
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv511383
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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