A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1063413



Internal ID19152632
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:31247234..31382110hg38UCSC Ensembl
Innerchr20:29835037..29969913hg19UCSC Ensembl
Innerchr20:29298698..29433574hg18UCSC Ensembl
Cytoband20q11.21
Allele length
AssemblyAllele length
hg38134877
hg19134877
hg18134877
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4298n100
Supporting Variantsnssv3584727
Samples
Known GenesDEFB115, DEFB116, DEFB118, DEFB119
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1063413
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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