A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv586458



Internal ID16373867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:62064410..62066430hg38UCSC Ensembl
Innerchr20:60639466..60641486hg19UCSC Ensembl
Innerchr20:60072861..60074881hg18UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg382021
hg192021
hg182021
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7646n54
Supporting Variantsnssv941995, nssv941994, nssv941993
Samples
Known GenesTAF4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv586458
Frequency
Sample Size17421
Observed Gain2
Observed Loss1
Observed Complex0
Frequencyn/a


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