A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518744



Internal ID8413019
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:48428464..48435183hg38UCSC Ensembl
Innerchr10:49636507..49643226hg19UCSC Ensembl
Innerchr10:49306513..49313232hg18UCSC Ensembl
Innerchr10:49306513..49313232hg17UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg386720
hg196720
hg186720
hg176720
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv696193
Samples
Known GenesMAPK8
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518744
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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