A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv586241



Internal ID16026964
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:54031284..54038765hg38UCSC Ensembl
Innerchr20:52647823..52655304hg19UCSC Ensembl
Innerchr20:52081230..52088711hg18UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg387482
hg197482
hg187482
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7607n54
Supporting Variantsnssv941375, nssv941374, nssv941373, nssv941371, nssv941372, nssv941376
Samples
Known GenesBCAS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv586241
Frequency
Sample Size17421
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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