A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1067494



Internal ID18810025
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:35730307..35796724hg38UCSC Ensembl
Innerchr20:34318229..34384646hg19UCSC Ensembl
Innerchr20:33781643..33848060hg18UCSC Ensembl
Cytoband20q11.22
Allele length
AssemblyAllele length
hg3866418
hg1966418
hg1866418
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4303n100
Supporting Variantsnssv3584748
Samples
Known GenesPHF20, RBM39
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1067494
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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