A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511514



Internal ID15850939
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:60978966..60979566hg38UCSC Ensembl
Outerchr13:60976966..60982554hg38UCSC Ensembl
Innerchr13:61553100..61553700hg19UCSC Ensembl
Outerchr13:61551100..61556688hg19UCSC Ensembl
Innerchr13:60451101..60451701hg18UCSC Ensembl
Outerchr13:60449101..60454689hg18UCSC Ensembl
Cytoband13q21.2
Allele length
AssemblyAllele length
hg385589
hg195589
hg185589
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv626134
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)nsv511514
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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