A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv586419



Internal ID16373828
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:61252182..61253322hg38UCSC Ensembl
Innerchr20:59827238..59828378hg19UCSC Ensembl
Innerchr20:59260633..59261773hg18UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg381141
hg191141
hg181141
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7637n54
Supporting Variantsnssv941927, nssv941928
Samples
Known GenesCDH4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv586419
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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