A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516280



Internal ID6013624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:3257868..3301897hg19UCSC Ensembl
Innerchr16:3197869..3241898hg18UCSC Ensembl
Innerchr16:3197869..3241898hg17UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Gain
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsnssv667316, nssv672107
Samples
Known GenesMEFV, OR1F2P, ZNF200
Method
AnalysisMerged-level CNV regions
PlatformIllumina HumanHap550 Genotyping BeadChip v3
Comments
ReferenceShaikh et al 2009
Pubmed ID19592680
Accession Number(s)nsv516280
Frequency
Sample Size2026
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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