A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv586634



Internal ID16027357
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:63737667..63741603hg38UCSC Ensembl
Innerchr20:62369020..62372956hg19UCSC Ensembl
Innerchr20:61839464..61843400hg18UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg383937
hg193937
hg183937
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7683n54
Supporting Variantsnssv943870, nssv943869, nssv943868
Samples
Known GenesLIME1, SLC2A4RG
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv586634
Frequency
Sample Size17421
Observed Gain2
Observed Loss1
Observed Complex0
Frequencyn/a


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