A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511560



Internal ID15850985
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:55765318..55773230hg38UCSC Ensembl
Outerchr16:55761302..55776232hg38UCSC Ensembl
Innerchr16:55799230..55807142hg19UCSC Ensembl
Outerchr16:55795214..55810144hg19UCSC Ensembl
Innerchr16:54356731..54364643hg18UCSC Ensembl
Outerchr16:54352715..54367645hg18UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg3814931
hg1914931
hg1814931
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv626185
Samples1
Known GenesCES1P1
MethodSNP array
AnalysisAnalysis of HGMDFN090 by Illumina HumanOmni1 Quad SNP array
PlatformGPL8882
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv511560
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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