A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv586006



Internal ID16373415
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:42529067..42662296hg38UCSC Ensembl
Innerchr20:41157707..41290936hg19UCSC Ensembl
Innerchr20:40591121..40724350hg18UCSC Ensembl
Cytoband20q12
Allele length
AssemblyAllele length
hg38133230
hg19133230
hg18133230
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7576n54
Supporting Variantsnssv939482
Samples
Known GenesPTPRT
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv586006
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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