A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv697000



Internal ID15086966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:48428464..48443306hg38UCSC Ensembl
Innerchr10:49636507..49651349hg19UCSC Ensembl
Innerchr10:49306513..49321355hg18UCSC Ensembl
Innerchr10:49306513..49321355hg17UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg3814843
hg1914843
hg1814843
hg1714843
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv519701
Supporting Variants
Samples
Known GenesMAPK8
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv697000
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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