A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv520117



Internal ID15447410
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:11534141..11571638hg38UCSC Ensembl
Innerchr8:11391650..11429147hg19UCSC Ensembl
Innerchr8:11429059..11466556hg18UCSC Ensembl
Innerchr8:11429059..11466556hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3837498
hg1937498
hg1837498
hg1737498
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv697231
Samples
Known GenesBLK
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv520117
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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