A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv585910



Internal ID16026633
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:31305698..31457590hg38UCSC Ensembl
Innerchr20:29893501..30045393hg19UCSC Ensembl
Innerchr20:29357162..29509054hg18UCSC Ensembl
Cytoband20q11.21
Allele length
AssemblyAllele length
hg38151893
hg19151893
hg18151893
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv939255
Samples
Known GenesDEFB116, DEFB118, DEFB119, DEFB121, DEFB122, DEFB123
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv585910
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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