A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv586489



Internal ID16373898
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:62322665..62412954hg38UCSC Ensembl
Innerchr20:60897721..60988010hg19UCSC Ensembl
Innerchr20:60331116..60421405hg18UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg3890290
hg1990290
hg1890290
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7651n54
Supporting Variantsnssv1152388
SamplesHGDP01351
Known GenesCABLES2, LAMA5, MIR4758, RBBP8NL, RPS21
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv586489
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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