A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv941793



Internal ID16235749
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:57709290..57711387hg38UCSC Ensembl
Innerchr20:56284346..56286443hg19UCSC Ensembl
Innerchr20:55717752..55719849hg18UCSC Ensembl
Cytoband20q13.31
Allele length
AssemblyAllele length
hg382098
hg192098
hg182098
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv586348
Supporting Variants
Samples
Known GenesPMEPA1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv941793
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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