A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511430



Internal ID15504169
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:112340986..112554119hg38UCSC Ensembl
Outerchr9:112333463..112558334hg38UCSC Ensembl
Innerchr9:115103266..115316399hg19UCSC Ensembl
Outerchr9:115095743..115320614hg19UCSC Ensembl
Innerchr9:114143087..114356220hg18UCSC Ensembl
Outerchr9:114135564..114360435hg18UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg38224872
hg19224872
hg18224872
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv626041
Samples1
Known GenesHSDL2, KIAA1958, MIR3134, PTBP3
MethodSNP array
AnalysisAnalysis of HGMDFN090 by Illumina HumanOmni1 Quad SNP array
PlatformGPL8882
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv511430
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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