A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv698688



Internal ID15088654
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:47845978..47918983hg38UCSC Ensembl
Innerchr2:48073117..48146122hg19UCSC Ensembl
Innerchr2:47926621..47999626hg18UCSC Ensembl
Innerchr2:47984768..48057773hg17UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg3873006
hg1973006
hg1873006
hg1773006
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv523013
Supporting Variants
Samples
Known GenesFBXO11
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv698688
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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