A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv586231



Internal ID16026954
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:54030387..54037814hg38UCSC Ensembl
Innerchr20:52646926..52654353hg19UCSC Ensembl
Innerchr20:52080333..52087760hg18UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg387428
hg197428
hg187428
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7607n54
Supporting Variantsnssv941235
Samples
Known GenesBCAS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv586231
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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