A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv586233



Internal ID16026956
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:54030387..54038008hg38UCSC Ensembl
Innerchr20:52646926..52654547hg19UCSC Ensembl
Innerchr20:52080333..52087954hg18UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg387622
hg197622
hg187622
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7607n54
Supporting Variantsnssv941238, nssv941237
Samples
Known GenesBCAS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv586233
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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