A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1056057



Internal ID18798588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:80652..461103hg38UCSC Ensembl
Innerchr20:61293..441747hg19UCSC Ensembl
Innerchr20:9293..389747hg18UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg38380452
hg19380455
hg18380455
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4219n100
Supporting Variantsnssv3589949, nssv3589948
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)nsv1056057
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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