A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv586177



Internal ID16026900
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:50358658..50546698hg38UCSC Ensembl
Innerchr20:48975195..49163235hg19UCSC Ensembl
Innerchr20:48408602..48596642hg18UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg38188041
hg19188041
hg18188041
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv940983
Samples
Known GenesPTPN1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv586177
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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