A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511517



Internal ID15850942
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:101241774..101243853hg38UCSC Ensembl
Outerchr13:101239108..101244126hg38UCSC Ensembl
Innerchr13:101894125..101896204hg19UCSC Ensembl
Outerchr13:101891459..101896477hg19UCSC Ensembl
Innerchr13:100692126..100694205hg18UCSC Ensembl
Outerchr13:100689460..100694478hg18UCSC Ensembl
Cytoband13q33.1
Allele length
AssemblyAllele length
hg385019
hg195019
hg185019
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv626137
Samples1
Known GenesNALCN
MethodSNP array
AnalysisAnalysis of HGMDFN090 by Illumina HumanOmni1 Quad SNP array
PlatformGPL8882
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv511517
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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