A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1056268



Internal ID19145487
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:80895..212680hg38UCSC Ensembl
Innerchr20:61536..193321hg19UCSC Ensembl
Innerchr20:9536..141321hg18UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg38131786
hg19131786
hg18131786
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4220n100
Supporting Variantsnssv3589951
Samples
Known GenesDEFB125, DEFB126, DEFB127, DEFB128
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1056268
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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