A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv586224



Internal ID16026947
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:53858311..54662951hg38UCSC Ensembl
Innerchr20:52474850..53279490hg19UCSC Ensembl
Innerchr20:51908257..52712897hg18UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg38804641
hg19804641
hg18804641
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv941222
Samples
Known GenesBCAS1, CYP24A1, DOK5, MIR4756, PFDN4, SUMO1P1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv586224
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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