A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516280



Internal ID8410555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:3207868..3251897hg38UCSC Ensembl
Innerchr16:3257868..3301897hg19UCSC Ensembl
Innerchr16:3197869..3241898hg18UCSC Ensembl
Innerchr16:3197869..3241898hg17UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3844030
hg1944030
hg1844030
hg1744030
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv667316, nssv672107
Samples
Known GenesMEFV, OR1F2P, ZNF200
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516280
Frequency
Sample Size2026
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer