A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511435



Internal ID15504174
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:120467435..120469022hg38UCSC Ensembl
Outerchr10:120466466..120471733hg38UCSC Ensembl
Innerchr10:122226947..122228534hg19UCSC Ensembl
Outerchr10:122225978..122231245hg19UCSC Ensembl
Innerchr10:122216937..122218524hg18UCSC Ensembl
Outerchr10:122215968..122221235hg18UCSC Ensembl
Cytoband10q26.12
Allele length
AssemblyAllele length
hg385268
hg195268
hg185268
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv626047
Samples1
Known GenesPPAPDC1A
MethodSNP array
AnalysisAnalysis of HGMDFN090 by Illumina HumanOmni1 Quad SNP array
PlatformGPL8882
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv511435
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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