A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518384



Internal ID15098991
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:6462395..6509566hg38UCSC Ensembl
Innerchr16:6512396..6559567hg19UCSC Ensembl
Innerchr16:6452397..6499568hg18UCSC Ensembl
Innerchr16:6452397..6499568hg17UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg3847172
hg1947172
hg1847172
hg1747172
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv695815
Samples
Known GenesRBFOX1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518384
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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