A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1066050



Internal ID18808581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:48949242..49110441hg38UCSC Ensembl
Innerchr20:47565779..47726978hg19UCSC Ensembl
Innerchr20:46999186..47160385hg18UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg38161200
hg19161200
hg18161200
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3584953
Samples
Known GenesARFGEF2, CSE1L
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1066050
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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