A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1066091



Internal ID18808622
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:31403416..31469379hg38UCSC Ensembl
Innerchr20:29991219..30057182hg19UCSC Ensembl
Innerchr20:29454880..29520843hg18UCSC Ensembl
Cytoband20q11.21
Allele length
AssemblyAllele length
hg3865964
hg1965964
hg1865964
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3737192
Samples
Known GenesDEFB121, DEFB122, DEFB123, DEFB124
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1066091
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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