A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3584727



Internal ID18883008
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 StatusS
Merged Variantsnsv1063413
Supporting Variants
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)nssv3584727
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer