A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3589947



Internal ID18541542
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:80652..442014hg38UCSC Ensembl
Innerchr20:61293..422658hg19UCSC Ensembl
Innerchr20:9293..370658hg18UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg38361363
hg19361366
hg18361366
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1060607
Supporting Variants
Samples
Known GenesC20orf96, DEFB125, DEFB126, DEFB127, DEFB128, DEFB129, DEFB132, NRSN2, RBCK1, SOX12, TBC1D20, TRIB3, ZCCHC3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3589947
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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