A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519701



Internal ID6017714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:49636507..49651349hg19UCSC Ensembl
Innerchr10:49306513..49321355hg18UCSC Ensembl
Innerchr10:49306513..49321355hg17UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv697000
Samples
Known GenesMAPK8
Method
AnalysisCNV regions located outside of or spanning over several merged-level regions determined by the submitter
PlatformIllumina HumanHap550 Genotyping BeadChip v3
Comments
ReferenceShaikh et al 2009
Pubmed ID19592680
Accession Number(s)nsv519701
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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