A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2804n100



Internal ID20154420
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:21522983..21828019hg38UCSC Ensembl
chr16:21534304..21839340hg19UCSC Ensembl
chr16:21441805..21746841hg18UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg38305037
hg19305037
hg18305037
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1047181, nsv1049578, nsv1036853, nsv1045266, nsv1037850
Samples
Known GenesIGSF6, METTL9, OTOA, RRN3P1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv2804n100
Frequency
Sample Size29084
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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