A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511528



Internal ID15850953
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:113802655..113803644hg38UCSC Ensembl
Outerchr13:113799443..113804564hg38UCSC Ensembl
Innerchr13:114505628..114506617hg19UCSC Ensembl
Outerchr13:114502416..114507537hg19UCSC Ensembl
Innerchr13:113607326..113608315hg18UCSC Ensembl
Outerchr13:113606406..113611527hg18UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg385122
hg195122
hg185122
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv626150
Samples1
Known GenesTMEM255B
MethodSNP array
AnalysisAnalysis of HGMDFN090 by Illumina HumanOmni1 Quad SNP array
PlatformGPL8882
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv511528
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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