A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518927



Internal ID15446220
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:76107929..76120587hg38UCSC Ensembl
Innerchr1:76573614..76586272hg19UCSC Ensembl
Innerchr1:76346202..76358860hg18UCSC Ensembl
Innerchr1:76285635..76298293hg17UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3812659
hg1912659
hg1812659
hg1712659
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv696392
Samples
Known GenesST6GALNAC3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518927
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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