A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv586478



Internal ID16373887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:62143364..62144292hg38UCSC Ensembl
Innerchr20:60718420..60719348hg19UCSC Ensembl
Innerchr20:60151815..60152743hg18UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38929
hg19929
hg18929
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7648n54
Supporting Variantsnssv942048, nssv942051, nssv942052, nssv942050, nssv942046, nssv942044, nssv942049, nssv942047, nssv942045, nssv942055, nssv942054, nssv942053
Samples
Known GenesPSMA7, SS18L1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv586478
Frequency
Sample Size17421
Observed Gain1
Observed Loss11
Observed Complex0
Frequencyn/a


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