A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511536



Internal ID15850961
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:79640586..79648520hg38UCSC Ensembl
Outerchr14:79632540..79649217hg38UCSC Ensembl
Innerchr14:80106929..80114863hg19UCSC Ensembl
Outerchr14:80098883..80115560hg19UCSC Ensembl
Innerchr14:79176682..79184616hg18UCSC Ensembl
Outerchr14:79168636..79185313hg18UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg3816678
hg1916678
hg1816678
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv626159
Samples1
Known GenesNRXN3
MethodSNP array
AnalysisAnalysis of HGMDFN090 by Illumina HumanOmni1 Quad SNP array
PlatformGPL8882
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv511536
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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