A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv941788



Internal ID16235744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:57709290..57710333hg38UCSC Ensembl
Innerchr20:56284346..56285389hg19UCSC Ensembl
Innerchr20:55717752..55718795hg18UCSC Ensembl
Cytoband20q13.31
Allele length
AssemblyAllele length
hg381044
hg191044
hg181044
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv586346
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)nssv941788
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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