A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2808n100



Internal ID20154424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:21574471..21731799hg38UCSC Ensembl
chr16:21585792..21743120hg19UCSC Ensembl
chr16:21493293..21650621hg18UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg38157329
hg19157329
hg18157329
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1038677, nsv1049990
Samples
Known GenesIGSF6, METTL9, OTOA
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv2808n100
Frequency
Sample Size29084
Observed Gain3
Observed Loss6
Observed Complex0
Frequencyn/a


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