A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3584729



Internal ID18536324
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:31247234..31436365hg38UCSC Ensembl
Innerchr20:29835037..30024168hg19UCSC Ensembl
Innerchr20:29298698..29487829hg18UCSC Ensembl
Cytoband20q11.21
Allele length
AssemblyAllele length
hg38189132
hg19189132
hg18189132
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1058516
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)nssv3584729
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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