A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1067230



Internal ID18809761
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:35840156..35956106hg38UCSC Ensembl
Innerchr20:34428078..34544028hg19UCSC Ensembl
Innerchr20:33891492..34007442hg18UCSC Ensembl
Cytoband20q11.22
Allele length
AssemblyAllele length
hg38115951
hg19115951
hg18115951
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3584752
Samples
Known GenesPHF20, SCAND1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1067230
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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