A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1061974



Internal ID18804505
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:38087420..38226717hg38UCSC Ensembl
Innerchr20:36715822..36855119hg19UCSC Ensembl
Innerchr20:36149236..36288533hg18UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg38139298
hg19139298
hg18139298
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4308n100
Supporting Variantsnssv3737200
Samples
Known GenesKIAA1755, RPRD1B, TGM2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1061974
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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