A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv586345



Internal ID16373754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:57709290..57710281hg38UCSC Ensembl
Innerchr20:56284346..56285337hg19UCSC Ensembl
Innerchr20:55717752..55718743hg18UCSC Ensembl
Cytoband20q13.31
Allele length
AssemblyAllele length
hg38992
hg19992
hg18992
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7624n54
Supporting Variantsnssv941785
Samples
Known GenesPMEPA1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv586345
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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