A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3584728



Internal ID18536323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:31247234..31423410hg38UCSC Ensembl
Innerchr20:29835037..30011213hg19UCSC Ensembl
Innerchr20:29298698..29474874hg18UCSC Ensembl
Cytoband20q11.21
Allele length
AssemblyAllele length
hg38176177
hg19176177
hg18176177
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1065102
Supporting Variants
Samples
Known GenesDEFB115, DEFB116, DEFB118, DEFB119, DEFB121, DEFB122
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3584728
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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