A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518509



Internal ID8412784
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:3583656..3688960hg38UCSC Ensembl
Innerchr16:3633657..3738961hg19UCSC Ensembl
Innerchr16:3573658..3678962hg18UCSC Ensembl
Innerchr16:3573658..3678962hg17UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38105305
hg19105305
hg18105305
hg17105305
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv695950
Samples
Known GenesDNASE1, SLX4, TRAP1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518509
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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