A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519376



Internal ID15099983
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:10754198..10834483hg38UCSC Ensembl
Innerchr8:10611708..10691993hg19UCSC Ensembl
Innerchr8:10649118..10729403hg18UCSC Ensembl
Innerchr8:10649118..10729403hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3880286
hg1980286
hg1880286
hg1780286
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv447n21
Supporting Variantsnssv696821
Samples
Known GenesMIR1322, PINX1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv519376
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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