A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1060607



Internal ID18803138
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 StatusM
Merged Variantsdgv4219n100
Supporting Variantsnssv3589947
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)nsv1060607
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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